European Human Genetics Conference 2007 June 16 – 19, 2007 ...

Recommendations

Info

Clinical genetics defined as a disability characterized by a remarkably low intellectual functioning (IQ
Clinical genetics type at 550 bands resolution level. No microrearrangements were found in the first patient by array-CGH method at 0.8Mb resolution. However, using the same method and also microsatellite marker studies it was possible founding a reciprocal translocation t(6;7)(q27;q34) in the father and a different segregation of the both involved chromosome to the two sibs. While one sib carried out a deletion at 6q27 band associated with a duplication of the 7q34-q36.3 region, the other sib presents the inverted microrearrangement - a partial duplication 6q plus a partial deletion 7q. We conclude that the Delleman phenotype is etiologically heterogeneous and that the involved chromosomal regions, 6q27 and 7q34 should be considered as candidate regions to looking for genes related to DS. P0179. A study of candidate genes for dominant non-syndromic microcephaly in a family with inherited chromosomal translocations t(5q35.2;18q22.3) A. Crepel, T. Voet, B. Thienpont, A. Vogels, J. Fryns, J. Vermeesch, K. Devriendt; Center of Human Genetics, Leuven, Belgium. In a large pedigree a balanced chromosomal translocation t(5q35.2;18q22.3) segregates with non-syndromic microcephaly (-2 to -3.7 SD) in 7 carriers, with the exception of 1 macrocephalic (+3.2 SD) carrier. No genes were directly disrupted by the breakpoints, suggesting a positional effect to alter gene expression levels. 2 candidate genes were identified near the breakpoints of the translocation: STC2 (stanniocalcin 2) ~72 kb downstream of the breakpoint on chr5 and NETO1 (neuropilin-and-tolloid precursor 1) ~105kb downstream of the breakpoint on chr18. Both candidate genes are expressed in brain and the neuropilin-domain in NETO1 points towards a possible role in axonal guidance. Patients with microdeletions of 5q35 encompassing STC2 present mild microcephaly. Measurement of RNA-expression levels for the candidates was hampered by variable expression of the genes in EBV cell-lines, the only patient material available. Heterozygous transcribed SNPs to test mono-allelic expression on cDNA level were absent. No mutations were detected in either genes in 3 other patients with non-syndromic microcephaly. Using a morpholino knock-down (KD) approach in zebrafish, severe cell death spreading from the diencephalon was observed for stc2 KD during somitogenesis (~10-24 hpf), coinciding with the time of primary brain development. For neto1, one morpholino generated similar cell death, 2 other independent morpholinos only generated general developmental delay. Confirmation of the role of one of these genes in microcephaly will be done by further mutation analysis in additional patients as well as further structural studies in the knockdown zebrafish embryo’s. P0180. Clinical, neuropathological and neuropsychological phenotype in two families with primary microcephaly due to ASPM/MCPH5 mutations L. Titomanlio 1,2 , F. Guimiot 3 , A. Afenjar 4 , L. Burglen 4 , T. Billette de Villemeur 5 , K. Hernandez 1 , J. Gadisseux 1 , B. Gerard 1 , A. Verloes 1,2 ; 1 Dept of Genetics, Robert DEBRE University Hospital, PARIS, France, 2 IN- SERM U676, Paris, France, 3 Dept of Fetal Pathology, Robert DEBRE University Hospital, PARIS, France, 4 Dept of Genetics, Armand TROUSSEAU Hospital, PARIS, France, 5 Dept of Pediatric Neurology, Armand TROUSSEAU Hospital, PARIS, France. Human autosomal recessive primary microcephaly (MCPH) is a heterogeneous disorder with at least six genetic loci (MCPH1-6). MCPH5, caused by ASPM (Abnormal Spindle-like, Microcephaly-associated - location: 1q31) gene mutations is the most commonly involved. We report new mutations in 2 families with MCPH5. In family 1 (non-consanguineous), the proband was born with an OFC of 32 cm. At age 4, OFC is -5SD and height is at -1SD. The boy shows mild psychomotor delay. A further pregnancy was terminated after echographic diagnosis of microcephaly. Neuropathology showed a small brain (biometry of 27-28 GW for 33 GW) with a mildly simplified gyral pattern for age, decreased neuronal population in cortical plate and premature depletion of the germinal zone. We found coumpound heterozygocyty for 1 nonsense and 1 frameshift (1 bp deletion) mutations: p.Gly26AlafsX42/ p.Arg2078X. In family 2 (consanguineous), two brothers were affected, although with different severity. The eldest one, aged 25, had an OFC < -8SD. His IQ was 55, with homogeneous scores and pre- served memory functions. The youngest, aged 10, has an OFC at - 5SD. His IQ was 70 with normal memory functioning but weaknesses in executive functions. He was still in mainstream schooling. Mutation screening showed an homozygous 2 bp deletion leading to frameshift p.Lys2595fsX6. Our patients illustrate intrafamial variability of ASPM mutants, confirm surprisingly good preservation of cognition despite major reduction in brain size, and confirm the absence of specific histological anomalies in ASPM-related MCPH. Detailed neuropsychological profile of family 2 will be presented. P0181. Familial microduplication 22q11.2 without cardiac anomaly T. Reimand 1 , K. Muru 1 , K. Kuuse 1 , K. Õunap 1,2 ; 1 1Medical Genetics Center, United Laboratories, Tartu University Hospital, Tartu, Estonia, 2 Department of Pediatrics, University of Tartu, Tartu, Estonia. The chromosomal rearrangements in region 22q11.2 lead to various types of congenital malformations and mental retardation. The most common molecular defect in region 22q11.2 is microdeletion, but recently the microduplication 22q11.2 syndrome has been identified. We describe mother and daughter with microduplication 22q11.2. Twenty-seven-year old patient was referred for genetic evaluation by cardiologist because of facial dysmorphism. She has short stature, facial dysmorphism, velopharyngeal insufficiency, toes anomalies, and learning disabilities. She had also one seizure episode without special findings in EEG. She has also diagnosed depression and arthropathy with contractures. She had no cardiac anomaly, only some tahhycardial episodes. Routine chromosome analysis of peripheral blood lymphocytes was performed using standard laboratory protocols and the karyotype was normal. Metaphase FISH-analysis with DiGeorge/VCFS TUPLE1 Region Probe (Cytocell, Aquarius) was performed only due to the referral doctor was a cardiologist. The analysis revealed unexpectedly two signals with different intensities on 22q11.2 (TUPLE1) regions. Further analysis of interphase nucleus revealed three signals of TUPLE1 of similar intensity and two signals of control probe located on 22q13.3 (N85A3) in each cell. The relatives of the proband were investigated. Her mother had the same cytogenetic finding - karyotype: 46,XX.ish dup(22)(q11.2q11.2). She has similar, but milder facial features. She had had some problems with fertility before her first pregnancy (now she has 5 children), she has premature menopause (39 years). She has no seizures, cardiac disturbances or psychiatric disorders. The other members of the family are under investigation. P0182. Implications of Spontaneous Excess Expression of Fra (16)(q22): An Emerging Syndrome? D. Babovic-Vuksanovic, M. Lega, Y. S. Zou, S. M. Jalal; Mayo Clinic, Rochester, MN, United States. A twelve year old girl was referred to Medical Genetics following assessment in Craniofacial Clinic for a possible cosmetic surgery. This patient had microstomia, cleft palate, micrognathia and dental crowding. Physical and mental development was normal. Her father and one of her sisters had remarkably similar physical features. Upon examination, it was thought that this family had a condition similar to what had been described previously in four other families, whom had an elevation of spontaneous 16q22.1 fragility and overlapping clinical features with our patients. Chromosome analyses were performed on metaphase lymphocytes grown in PHA-stimulated blood cultures by standard procedures. Our patient had an unusually high spontaneous expression of chromosome fragility at 16q22.1, with an otherwise normal karyotype. The fragility was expressed as either a deletion or a chromosome gap in 5 of the 30 metaphase cells (16.7%) analyzed. Likewise, the spontaneous expression of the fragile site was found to be 20% and 30% for this patient’s sister and father, respectively. An unaffected sister had a normal karyotype and no expression of 16q22.1 fragility. Our observation of fragility at 16q22.1 seems to segregate with phenotypic features of microstomia, cleft palate, micrognathia and dental crowding in this family. Our findings, in conjunction with those of previous case reports, have lead us to speculate that fragility at 16q22.1 and microstomia is an emerging syndrome, possibly caused by a regulatory disturbance of genes involved especially in jaw development.
Page 1 and 2:
Volume 15 Supplement 1 June 2007 ww
Page 3 and 4:
Table of Contents Spoken Presentati
Page 5 and 6:
Plenary Lectures Plenary Lectures P
Page 7 and 8:
Plenary Lectures labile iron can be
Page 9 and 10:
Concurrent Symposia S07. Vertebrate
Page 11 and 12:
Concurrent Symposia S17. Towards a
Page 13 and 14:
Concurrent Symposia 11 at E13.5 sim
Page 15 and 16:
Concurrent Symposia 1 phomagenesis.
Page 17 and 18:
cover cryptic mutations in Drosophi
Page 19 and 20:
Concurrent Sessions first excluded
Page 21 and 22:
Concurrent Sessions of 210 ancestry
Page 23 and 24:
Concurrent Sessions C23. Literature
Page 25 and 26: Concurrent Sessions a boy with a ty
Page 27 and 28: Concurrent Sessions C40. Mutation o
Page 29 and 30: Concurrent Sessions C48. CHROMSCAN:
Page 31 and 32: Concurrent Sessions C57. RNAi-based
Page 33 and 34: Concurrent Sessions been replicated
Page 35 and 36: Concurrent Sessions involved in an
Page 37 and 38: Concurrent Sessions tion considers
Page 39 and 40: Clinical genetics lateral neurosens
Page 41 and 42: Clinical genetics apparently sporad
Page 43 and 44: Clinical genetics itar syndrome, wh
Page 45 and 46: Clinical genetics diseases, Foundat
Page 47 and 48: Clinical genetics P0041. The first
Page 49 and 50: Clinical genetics EFNB1 was found t
Page 51 and 52: Clinical genetics of the CSB gene.
Page 53 and 54: Clinical genetics growth retardatio
Page 55 and 56: Clinical genetics PCR with a modifi
Page 57 and 58: Clinical genetics pound heterozygou
Page 59 and 60: Clinical genetics plicated: two cou
Page 61 and 62: Clinical genetics P0105. APC gene m
Page 63 and 64: Clinical genetics an indication of
Page 65 and 66: Clinical genetics great importance
Page 67 and 68: Clinical genetics P0133. Hidrotic e
Page 69 and 70: Clinical genetics eight patients as
Page 71 and 72: Clinical genetics P0152. Kabuki syn
Page 73 and 74: Clinical genetics P0161. Intrafamil
Page 75: Clinical genetics matter and normal
Page 79 and 80: Clinical genetics will be confirmed
Page 81 and 82: Clinical genetics nosed. Accurate r
Page 83 and 84: Clinical genetics which has not bee
Page 85 and 86: Clinical genetics P0217. Partial mo
Page 87 and 88: Clinical genetics fested progeroid
Page 89 and 90: Clinical genetics A 29 years old ma
Page 91 and 92: Clinical genetics ing loss (HHL). I
Page 93 and 94: Clinical genetics dació Son Llatze
Page 95 and 96: Clinical genetics These preliminary
Page 97 and 98: Clinical genetics P0272. Williams S
Page 99 and 100: Cytogenetics Po02. Cytogenetics P02
Page 101 and 102: Cytogenetics to reports from Saudi
Page 103 and 104: Cytogenetics P0298. Female-specific
Page 105 and 106: Cytogenetics P0306. Lipoatrophic pa
Page 107 and 108: Cytogenetics 22 leading to the form
Page 109 and 110: Cytogenetics somal sperm and that o
Page 111 and 112: Cytogenetics University of Belgrade
Page 113 and 114: Cytogenetics Within the same metaph
Page 115 and 116: Cytogenetics Less than 10 cases of
Page 117 and 118: Cytogenetics lar markers taken from
Page 119 and 120: Cytogenetics Brain Unaffected Schiz
Page 121 and 122: Cytogenetics ability with no speech
Page 123 and 124: Cytogenetics P0389. An age based cy
Page 125 and 126: Cytogenetics P0399. Molecular Chara
Page 127 and 128:
Cytogenetics ing of complex examina
Page 129 and 130:
Cytogenetics letion in 5q33 in all
Page 131 and 132:
Cytogenetics and his son carried th
Page 133 and 134:
Prenatal diagnosis tion about famil
Page 135 and 136:
Prenatal diagnosis P0443. The risk
Page 137 and 138:
Prenatal diagnosis in house PCR pro
Page 139 and 140:
Prenatal diagnosis P0462. Increased
Page 141 and 142:
Prenatal diagnosis P0471. Preimplan
Page 143 and 144:
Prenatal diagnosis agreement with w
Page 145 and 146:
Prenatal diagnosis of Turner Syndro
Page 147 and 148:
Cancer genetics ously defined for d
Page 149 and 150:
Cancer genetics Their frequencies w
Page 151 and 152:
Cancer genetics tion Clinic-Portugu
Page 153 and 154:
Cancer genetics tric carcinogenesis
Page 155 and 156:
Cancer genetics P0532. Secondary ch
Page 157 and 158:
Cancer genetics P0542. Differential
Page 159 and 160:
Cancer genetics gastric cancer risk
Page 161 and 162:
Cancer genetics ania, 3 The Institu
Page 163 and 164:
Cancer genetics low: 8% (8/98 sampl
Page 165 and 166:
Cancer genetics P0578. Somatic mito
Page 167 and 168:
Cancer genetics P0587. Differential
Page 169 and 170:
Cancer genetics cinoma (ESCC), whic
Page 171 and 172:
Cancer genetics method to measure t
Page 173 and 174:
Cancer genetics pression (compared
Page 175 and 176:
Cancer genetics to available biolog
Page 177 and 178:
Molecular and biochemical basis of
Page 179 and 180:
Page 181 and 182:
Page 183 and 184:
Page 185 and 186:
Page 187 and 188:
Page 189 and 190:
Page 191 and 192:
Page 193 and 194:
Page 195 and 196:
Page 197 and 198:
Page 199 and 200:
Page 201 and 202:
Page 203 and 204:
Page 205 and 206:
Page 207 and 208:
Page 209 and 210:
Page 211 and 212:
Page 213 and 214:
Page 215 and 216:
Page 217 and 218:
Page 219 and 220:
Page 221 and 222:
Page 223 and 224:
Page 225 and 226:
Page 227 and 228:
Page 229 and 230:
Page 231 and 232:
Page 233 and 234:
Page 235 and 236:
Genetic analysis, linkage, and asso
Page 237 and 238:
Page 239 and 240:
Page 241 and 242:
Page 243 and 244:
Page 245 and 246:
Page 247 and 248:
Page 249 and 250:
Page 251 and 252:
Page 253 and 254:
Page 255 and 256:
Page 257 and 258:
Page 259 and 260:
Page 261 and 262:
Page 263 and 264:
Page 265 and 266:
Page 267 and 268:
Page 269 and 270:
Page 271 and 272:
Page 273 and 274:
Page 275 and 276:
Page 277 and 278:
Page 279 and 280:
Page 281 and 282:
Page 283 and 284:
Page 285 and 286:
Page 287 and 288:
Normal variation, population geneti
Page 289 and 290:
Page 291 and 292:
Page 293 and 294:
Page 295 and 296:
Page 297 and 298:
Page 299 and 300:
Page 301 and 302:
Page 303 and 304:
Page 305 and 306:
Page 307 and 308:
Page 309 and 310:
Genomics, technology, bioinformatic
Page 311 and 312:
Page 313 and 314:
Page 315 and 316:
Page 317 and 318:
Page 319 and 320:
Page 321 and 322:
Page 323 and 324:
Page 325 and 326:
Page 327 and 328:
Genetic counselling, education, gen
Page 329 and 330:
Page 331 and 332:
Page 333 and 334:
Page 335 and 336:
Page 337 and 338:
Page 339 and 340:
Page 341 and 342:
Page 343 and 344:
Page 345 and 346:
Page 347 and 348:
Therapy for genetic disease Po10. T
Page 349 and 350:
Therapy for genetic disease P1405.
Page 351 and 352:
Therapy for genetic disease exon 7
Page 353 and 354:
Author Index 1 Arslan-Krichner, M.:
Page 355 and 356:
Author Index Borkowska, A.: P1089 B
Page 357 and 358:
Author Index Coviello, D.: P0078, P
Page 359 and 360:
Author Index Estivill, X.: P1216, P
Page 361 and 362:
Author Index Graf, S. A.: P0021 Gra
Page 363 and 364:
Author Index 1 Josifiova, D.: PL07
Page 365 and 366:
Author Index Laurier, V.: C03 Lauri
Page 367 and 368:
Author Index Melo, D. G.: P0260, P0
Page 369 and 370:
Author Index Osorio, P.: P0218 Osta
Page 371 and 372:
Author Index Reese, T.: C06 Regal,
Page 373 and 374:
Author Index 1 Shaposhnikov, S.: P0
Page 375 and 376:
Author Index Touitou, I.: P0733 Tou
Page 377 and 378:
Author Index Xiao, C.: P1241 Xie, G
Page 379 and 380:
Keyword Index ARMR: P0907 array CGH
Page 381 and 382:
Keyword Index Consanguineous marria
Page 383 and 384:
Keyword Index 1 Fronto-temporal dem
Page 385 and 386:
Keyword Index IRF5: P1086 IRF6: P07
Page 387 and 388:
Keyword Index NBS1 gene: P0567 NBS-
Page 389 and 390:
Keyword Index P1085 Rep1: P1104 rep
Page 391 and 392:
Keyword Index vision: P0632 Vitamin
Page 393 and 394:
Notes 1
Page 395 and 396:
A natural choice in Fabry Disease P
show all

European Human Genetics Conference 2007 June 16 – 19, 2007 ...

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?