2009 Vienna - European Society of Human Genetics

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Clinical genetics and Dysmorphology P02.166 Novel mutation in sEDL gene in three sibling of Russian family with X-linked spondyloepiphyseal dysplasia tarda V. P. Fedotov1 , E. A. Bliznetz2 , I. S. Plotko1 , A. V. Korobov1 , A. V. Polyakov2 ; 1 2 VOCDC genetic counseling, Voronezh, Russian Federation, Research Centre for Medical Genetic, Moscow, Russian Federation. Spondyloepiphyseal dysplasia tarda (SEDL; MIM 313400) is an Xlinked recessive osteochondrodysplasia that occurs in approximately two of every one million people. This progressive skeletal disorder which manifests in childhood is characterized by disproportionate short stature with short neck and trunk, barrel chest and absence of systemic complications. Distinctive radiological signs are platyspondyly with hump-shaped central and posterior portions, narrow disc spaces, and mild to moderate epiphyseal dysplasia. The latter usually leads to premature secondary osteoarthritis often requiring hip arthroplasty. The disorder is caused by the mutations in SEDL gene located on Xp22.12p22.31. SEDL encodes a 140 amino acid protein with a putative role in endoplasmic reticulum (ER)-to-Golgi vesicular transport. Here we report Russian family case with three affected sibs of five sibs born in two mother wedlock. Two patients were investigated at the age of 19 and 26 years and had typical clinical and radiological signs of SEDL. Onset of the disease was at the age after of 10 with growth impairment, back pain and waddling gait. Osteoarthritic changes were present in both hip joints with flattening of the femoral heads. In the patients, the mutation analysis in SEDL gene was performed, and a novel hemizygous mutation c.133G>C leading to the amino acid substitution Ala45Pro was found. This mutation was not identified in healthy mother and in 88 control chromosomes (in 35 males and 24 females). P02.167 tAR syndrome case Report M. Boia 1,2 , V. Belengeanu 1 , E. S. Boia 1,3 , A. Popoiu 1 , D. Iacob 1 , A. Manea 1 , L. Stoica 4 ; 1 University of Medicine and Pharmacy, Timisoara, Romania, 2 Clinical Emergency Hospital for Children “Louis Turcanu”; Premature and Neonatology Department;, Timisoara, Romania, 3 Clinical Emergency Hospital for Children “Louis Turcanu”, Pediatric Surgery and Orthopedics Department, Timisoara, Romania, 4 Clinical Emergency Hospital for Children “Louis Turcanu”, Timisoara, Romania. Extremely rare affection in current medical praxis, TAR syndrome represents an association of malformations that includes almost every tissues and organs: hematological, cardiac, gastro-intestinal, skeletal. Material and Method: A case of a newborn was presented, who was been hospitalized at 10 hours age with a complex malformed syndrome. Results: The physical examination and the paraclinical investigations revealed us TAR syndrome. The historical record of the newborn was not containing any special/unusual elements: newborn female with the gestational age of 38 weeks, birth weight: 2750 g, natural born in cephalic presentation, APGAR score: 8/9, green amniotic fluid. The physical examination was showing: pale tegument, purple items over the chest, short forearms, simian line, ogival mouth palate, lowimplanted ears. The cardiologic examination revealed a moderate cardiomegaly with atrial septal defect and minimal left-right bridge. The skeletal X-ray confirmed the presence of one malformation: short forearms with the congenital bilateral radial aplasia. The head ultrasonography in dynamics showed the presence of this cystic formations specific for periventricularleucomalacia - cystic form. A second degree intraventricular haemorrhage was associated. Thrombocytopenia was severe: initially 14000/mmc until 35-40000/ mmc required several transfusions with thrombocyte concentrate. The evolution was slow, but favorably under the treatment; the discharge was done with weekly monitoring of hemogram condition. Conclusions: ● Specific signs were present, except gastro-intestinal affection - the patient didn’t present lactose intolerance; ● The severe thrombocytopenia was maintained throughout hospitalization, but this didn’t aggravate the intraventricular haemorrage (this particular one had a relatively good evolution). P02.168 Expression and functional analysis of EFNB mutations in craniofrontonasal syndrome R. Makarov 1 , B. Steiner 2 , S. Preisler-Adams 3 , A. Rauch 2 , P. Wieacker 3 , I. Wieland 1 ; 1 Institut für Humangenetik, Magdeburg, Germany, 2 Institut für Medizinische Genetik, Zürich, Switzerland, 3 Institut für Humangenetik, Münster, Germany. EFNB1 gene (OMIM 300035) encodes ephrin-B1 - a member of the ephrin-receptor ligand family. Together with their receptors (Eph) ephrins form signalling complexes involved in cell adhesion and migration. Mutations of EFNB1 cause craniofrontonasal syndrome (CFNS; OMIM 304110). We describe missense mutations c.161C>T (p.P54L) and c.332C>T (p.T111I), splice-site mutation c.406+2T>C and frameshift mutation c.614_615delCT that were found in CFNS female patients. The splice site mutation activates a cryptic splice site resulting in a smaller transcript. The frameshift mutation causes a premature termination codon, but escapes nonsense-mediated mRNA decay. No truncated ephrin-B1 was detected by Western blot analysis in protein extracts from patient fibroblasts for both of these mutations. Absence of mutant protein shows that c.406+2T>C and c.614_615delCT probably have loss-of-function effects. Both missense mutations lead to an amino acid exchange in the ephrin-B1 extracellular domain. In order to evaluate the impact of these mutations on signalling and cell behaviour, NIH 3T3 cells were cotransfected with pEGFP-N3 vector and pcDNA 3.1 (+) vector containing cDNA of wild-type or mutant type c.161C>T and c.332C>T EFNB1. Transfected cells were stimulated with EphB2-Fc/Fc and analysed using fluorescent microscopy. After stimulation wt- and p.T111I-ephrin-B1 expressing cells formed cell patches, whereas no patches were observed for p.P54L. Western blot analysis using anti-ephrin-B1-pTyr(324/329) showed differences concerning ephrin-B1 phosphorylation and its timing for mutant and wt protein. This may indicate that other Tyr-residues are more important for signalling. Alternatively, disrupted signalling through the Eph-B2receptor contributes to the disease manifestation. P02.169 EVc1 and EVc2 gene mutations associated to Ellis-van creveld syndrome I. Torrente1 , M. C. D’Asdia1 , N. Grifone1 , M. C. Digilio2 , B. Dallapiccola1,3 ; 1IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy, 2 3 Medical Genetics, Bambino Gesù Hospital, Rome, Italy, Department of Experimental Medicine and Pathology, “La Sapienza” University of Rome, Rome, Italy. Ellis-van Creveld syndrome (EVC, MIM #225500) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. This rare genetic disease is inherited as an autosomal recessive trait with variable expression. In general population the incidence is reported as one per 60000 live births. Mutations of EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC1 gene has 21 coding exons spanning 120kb of genomic DNA and gives rise to a 992 amino acid protein. EVC2 gene has 22 coding exons spanning 150kb of genomic DNA and encodes a 1,308 amino acid protein. In this study we screened for mutations in both genes a panel of 33 EvC patients originated from different countries and collected relative clinical data. The analysis were conducted by DHPLC and direct sequencing of the PCR products resulting from amplification of all coding exons. We identified 22 mutations (16 never described in literature), 16 in EVC1 gene and 6 in EVC2. In EVC1 we identified 8 splicing, 5 frameshift, 2 missense mutations and a large deletion spanning almost all exon 13 (82419_82561del). In EVC2 gene we described 3 frameshift, 1 splicing, 1 missense and 1 nonsense mutations. Our study expands the spectrum of mutations associated with EVC syndrome and will contribute to further understanding of the molecular basis underlying the phenotypic variability of the disease. P02.170 Alpha thalassemia: sometimes a complex diagnosis A. Ravani, A. Venturoli, M. Taddei Masieri, B. Dolcini, C. Trabanelli, S. Carturan, S. Fini, P. Rimessi, F. Gualandi, S. Bigoni, A. Ferlini; Sezione di Genetica Medica - Università degli Studi, Ferrara, Italy. We report the case of a couple, coming from Philippines, referred to our Laboratory during the pregnancy for suspected alpha-thalassemia.We performed the routine analysis for the 7 most common muta-
Clinical genetics and Dysmorphology tions, using gap-PCR for deletions and restriction analysis for point mutations. The male resulted heterozygous Alpha2IVS1-5nt, while the woman was negative.We checked the results using a RDB commercial kit, able to detect 22 alpha-globin mutations. The female showed a double gene deletion(--SEA), not tested in the first approach, while the point mutation was not present in the male. Following direct sequencing we can detect a novel deletion of 24 bp adjacent to the 5nt-pathogenic deletion: this variation affected the restriction site used for the first diagnosis by RFLP.However, a bioinformatic analysis excluded a possible functional meaning. Since the female had performed an amniocentesis for advanced maternal age, we explored the presence of these mutations in foetal cells too.We found the--SEA,but not the 24nt-deletion.We confirmed by MLPA the prenatal diagnosis, but unexpectedly MLPA failed to amplify one probe: 8488-L8410, located between HBA1P andHBA2.Sequencing the corresponding region we identified a SNP in the father and in the foetus, responsible for the lack of amplification at MLPA. Failing the genotype characterisation, the couple would be wrongly considered at risk for HBH in their children.This experience allowed us to conclude that molecular characterisation of globin genes, although widely and routinely diagnosed, must be performed by laboratories with consistent cultural background and with availability of a panel of articulated methods for assuring accurate testing. P02.171 mLPA: A screening tool for molecular diagnosis of unknown alpha thalassemia deletions M. S. Fallah 1,2 , S. A. Aleyasin 1 , R. Mahdian 3 , M. Karimpour 3 , A. Ebrahimi 1 , M. Raeisi 2 , S. Kianfar 2 , M. Sadeghi 2 , S. Zeinali 3,2 ; 1 National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Islamic Republic of Iran, 2 Kawsar Human Genetics Research Center, Kawsar Genomics & Biotech Center, Tehran, Islamic Republic of Iran, 3 Pasteure Institute, Tehran, Islamic Republic of Iran. Introduction: Alpha thalassemia is the most common hemoglobin disorder in Iran. Most of known alpha thalassemia mutations include deletion of one or both alpha globin genes. Its importance is mainly due to its role in making a correct decision for performing prenatal diagnosis (PND) and differentiating unknown alpha thalassemia from normal HbA2 beta thalassemia. MLPA, a recently developed simple technique suitable for rapid quantitative analysis of deletions and duplications, was used to determine new deletion in cases suspected of alpha thalassemia. Material and Methods: Couples referred to Kawsar Genomics Center for PND investigated for common deletional alpha-globin mutations and point mutation using multiplex Gap-PCR and direct sequencing respectively. Those remained unknown, further investigated for other deletions by MLPA methods which performed. After denaturation, hybridization and ligation, PCR-amplification was performed with the specific SALSA primers. Electrophoresis of PCR products performed using ABI-3130 genetic-analyzer. Result: Thirty three suspected cases with low MCV, low MCH and normal HbA2 included in the study. No alpha globin gene mutation was detected in conventional investigation for common deletions and point mutations. In MLPA study of globin gene cluster a variety of diverse deletion patterns in probe set were seen in 23 (69.7%) of cases expanding from downstream of teta gene up to HS-40. Deletion lengths varied from at least 5.8 kb up to 67.2 kb. Conclusion: This study, showed using MLPA can help us to increase accuracy of prenatal diagnosis for alpha thalassemia especially when we face with cases suspected to have large deletion. P02.172 transfusion dependent H disease: caused by compound heterozygote of two point mutations in alpha globin gene P. Fouladi 1 , F. Rahiminejad 1 , S. Foroughi 1 , M. Feizpour 1 , M. Masoudifard 1 , S. Mousavi 1 , M. S. Fallah 1,2 , S. Zeinali 1,3 ; 1 Kawsar Human Genetics Research Center, Tehran, Islamic Republic of Iran, 2 National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Islamic Republic of Iran, 3 CenterDep’t of Mol. Med., Biotech Research Center, Pasteur Institute of Iran, Tehran, Islamic Republic of Iran. Thalassemia is the most prevalent genetic disorder. It can be of different severity characterized by an imbalance of α and β-globins genes expression leading to anemia. H disease is the result of mutation in 3 alpha globins genes. However, it can also be result of coinheritance of 2 point mutations. Here we report a case of transfusion dependent H disease. DNA was extracted from peripheral blood cells according to the protocols. Alpha and beta globins gene cluster was investigated using direct sequencing and real time PCR. A couple with hematologic picture of alpha thalassemia (low MCV, MCH, and normal HbA2) were referred to our center (i.e. Father with MCV=73.6 Fl, MCH=21.6 pg, Hb=12.6 g/dl and HbA2=2.7 and the mother with MCV=73.5 Fl, MCH=22.2 pg, Hb=11g/dl and HbA2=2.2) They had an 8 years old child with more severe hematological presentation (i.e. MCV=62.7 Fl, MCH=16.1 pg, Hb=5.1 g/dl and HbA2=2.5) who received blood transfusion once a month since 7 years old. Molecular study revealed no mutation in beta globins gene in the child or the parents. Direct sequencing of alpha globins genes showed 2 point mutations in alpha II gene of the affected child (i.e. poly A1: AATAAA>AATAAG and C59: GGC>CGC). Poly A1 had been inherited from the father and C59 from his mother. This report indicates the importance of alpha globins gene point mutation and the possible need for prenatal diagnosis. There is a need for more reports on similar cases to provide a better genetic counseling for at risk couples. P02.173 Low HbA2, beta thalassemia; not very prevalent but important M. Feizpour 1 , R. Vahidi 1 , F. Rahiminejad 1 , S. Frouoghi 1 , P. Fouladi 1 , M. Heidari 1 , M. Vahidi 1 , S. Ghahremani 1 , Z. Shahab Movahed 1 , M. Fallah 2,1 , S. Zeinali 3,1 ; 1 Kawsar Human Genetics Research Center, Kawsar Genomics & Biotech Center, Tehran, Islamic Republic of Iran, 2 National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Islamic Republic of Iran, 3 Dep’t of Mol. Med., Biotech Research Center, Pasteur Institute of Iran, Tehran, Islamic Republic of Iran. Introduction: Beta thalassemia is one of the most prevalent monogenetic disorders in the word and also in Iran. Those who carry one mutation in beta globin gene usually present with hematologic picture of microcytic hypochromic anemia with high HbA2. Mutation in IVSII-nt1 in the beta globin gene is one of those, which usually presents with HbA2 higher than 3.5 g/dl. Material and methods: Couples referred to us for prenatal diagnosis (PND) of thalassemia were investigated using ARMS PCR technique and direct sequencing. Results: From those investigated for beta thalassemia mutation in the past 8 years, 23 cases (less than 2 %) of those with IVSII-nt1 mutation, had normal HbA2. From which, 9 cases (39.1%) showed high HbF (>=1.5) (range: 1.6-11.5 g/dl) with hematologic picture of MCV: 51-70.4; MCH: 17.1-22.3; Hb: 9.9-14.6 and HbA2: 1.7-3.4. Cases with low HbF (
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Volume 17 Supplement 2 May 2009 www
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European Society of Human Genetics
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Table of Contents spoken Presentati
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Plenary Lectures PL2.2 massive para
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Concurrent Symposia s01.1 Genome va
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Concurrent Symposia Monogenic diabe
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Concurrent Symposia invariable in t
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Concurrent Symposia s11.2 clinical,
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Concurrent Symposia s13.2 A novel g
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Concurrent Sessions c01.1 mRNA-seq
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Concurrent Sessions velopmental del
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Concurrent Sessions development of
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Concurrent Sessions c04.6 Duplicati
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Concurrent Sessions genes to be rec
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Concurrent Sessions c07.5 Prenatal
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Concurrent Sessions with familial h
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Concurrent Sessions University of W
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Concurrent Sessions with this, we f
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Concurrent Sessions had immotile ci
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Concurrent Sessions abnormal glycos
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Concurrent Sessions showers’ and
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Concurrent Sessions partial gene de
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Page 47 and 48: Genetic counseling Genetics educati
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Page 105 and 106: Cytogenetics P03. cytogenetics Recu
Page 107 and 108: Cytogenetics use of metaphase analy
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Page 111 and 112: Cytogenetics P03.028 HLA B27 allele
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Page 119 and 120: Cytogenetics grandmother and 2 mate
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Page 125 and 126: Cytogenetics All detected anomalies
Page 127 and 128: Cytogenetics somy for chromosome 2.
Page 129 and 130: Cytogenetics cially in chromosome 4
Page 131 and 132: Cytogenetics (59.390.122 to 62.021.
Page 133 and 134: Cytogenetics For further characteri
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Page 139 and 140: Cytogenetics donation program of po
Page 141 and 142: Cytogenetics P03.165 interpretation
Page 143 and 144: Cytogenetics P03.174 Deletion of th
Page 145 and 146: Cytogenetics P03.183 An atypical 7q
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Cytogenetics spermia, 11 oligosperm
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Reproductive genetics and social fa
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Reproductive genetics mosomal chang
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Reproductive genetics two cohorts w
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Reproductive genetics the 147 SC ch
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Prenatal and perinatal genetics P05
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Prenatal and perinatal genetics and
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Prenatal and perinatal genetics fro
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Prenatal and perinatal genetics dev
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Prenatal and perinatal genetics in
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Prenatal and perinatal genetics obj
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Prenatal and perinatal genetics P05
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Cancer genetics P06.005 tiling reso
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Cancer genetics tient group in whic
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Cancer genetics chronic inflammatio
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Cancer genetics licular thyroid can
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Cancer genetics also studied. In 31
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Cancer genetics tile polyposis. We
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Cancer genetics Upon recombinant ex
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Cancer genetics variant allele was
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Cancer genetics from patients with
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Cancer genetics tion (PAX5 and GATA
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Cancer genetics scribed underexpres
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Cancer genetics of the ZIC gene fam
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Cancer genetics Materials and metho
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Cancer genetics the past and it is
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Cancer genetics P06.130 spectrum an
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Cancer genetics P06.139 the role of
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Cancer genetics and MSH2 germline m
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Cancer genetics P06.155 New roles f
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Cancer genetics screening was perfo
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Cancer genetics val (DFI) than pati
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Cancer genetics is hTERC gene ampli
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Cancer genetics on chromosome regio
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Cancer genetics preferentially dupl
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Cancer cytogenetics mutations in co
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Cancer cytogenetics P07.08 molecula
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Statistical genetics, includes Mapp
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Complex traits and polygenic disord
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Evolutionary and population genetic
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Genomics, Genomic technology and Ep
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Molecular basis of Mendelian disord
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Metabolic disorders P12.167 Pattern
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Metabolic disorders PKU. BH4 challe
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Metabolic disorders catepe Universi
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Metabolic disorders respectively. G
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Metabolic disorders enzymaticaly co
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Metabolic disorders Normal Affected
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Therapy for genetic disorders in th
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Therapy for genetic disorders P14.0
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Therapy for genetic disorders of me
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Laboratory and quality management P
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Laboratory and quality management T
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Molecular and biochemical basis of
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Genetic analysis, linkage ans assoc
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Author Index Allanson, J.: P02.140
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Author Index 0 Barbacioru, C.: C01.
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Author Index 0 Bonneau, D.: C16.2,
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Author Index 0 Chakravarti, A.: C13
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Author Index 0 Dan, D.: P01.39, P14
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Author Index 0 Duskova, J.: P06.012
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Author Index Franke, A.: P09.056 Fr
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Author Index Grasso, R.: P02.025 Gr
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Author Index Holder-Espinasse, M.:
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Author Index Jurkiewicz, E.: C14.5
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Author Index Kooper, A. J. A.: P05.
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Author Index Li, K. J.: P11.086 Li,
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Author Index Martinet, D.: P03.095
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Author Index Moorman, A. F. M.: P16
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Author Index P10.57, P10.82 Oguzkan
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Author Index P09.054, P09.085, P09.
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Author Index P16.01 Renieri, A.: P0
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Author Index Santorelli, F.: P08.55
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Author Index Sinke, R. J.: P02.020
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Author Index Taheri, M.: P04.33, P0
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Author Index Valentino, P.: P02.064
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Author Index Wiemer-Kruel, A.: P14.
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Keyword Index 1 10q22 deletions: P0
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Keyword Index autosomal dominant re
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Keyword Index CLA: P06.073 CLCN1 ge
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Keyword Index DMD: P16.40, P16.41,
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Keyword Index gene networks: S12.2
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Keyword Index hydrocephaly: P05.11
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Keyword Index malignant hyperthermi
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Keyword Index NAT2: P12.118 natridi
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Keyword Index Polymalformations: P0
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Keyword Index Sardinia: C09.6 Sardi
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Keyword Index TNFalpha: P08.61, P09
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2009 Vienna - European Society of Human Genetics

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