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Turk J Hematol 2017;34:356-381LETTERS TO THE EDITORIn conclusion, identification of this phenotype is veryimportant because this particular patient subgroup may beclinically mislabeled as group O. If patients with anti-H in theircirculation receive transfusions of blood with the H antigen, itmay cause a transfusion reaction such as an acute hemolyticreaction. Here we have reported a rare case of the para-Bombayphenotype caused by the homozygous mutation c.881_882delTT(p.Phe294Cysfs*40).AcknowledgmentsOur gratitude goes to Michael Burton, Asia University. This studywas supported by grants from Asia University and China MedicalUniversity Hospital (ASIA-105-CMUH-07).Keywords: Para-Bombay, Phenotype, FUT1 gene, BloodtransfusionAnahtar Sözcükler: Para-Bombay, Fenotip, FUT1 geni, KantransfüzyonuConflict of Interest: The authors of this paper have no conflicts ofinterest, including specific financial interests, relationships, and/oraffiliations relevant to the subject matter or materials included.References1. Cai XH, Jin X, Fan LF, Lu Q, Xiang D. Molecular genetic analysis for the para-Bombay blood group revealing two novel alleles in the FUT1 gene. BloodTransfus 2011;9:466-468.2. Chen DP, Tseng CP, Wang WT, Peng CT, Tsao KC, Wu TL, Lin KT, Sun CF. Twoprevalent h allele in para-Bombay haplotypes among 250,000 Taiwanese.Ann Clin Lab Sci 2004;34:314-318.3. Zhang A, Chi Q, Ren B. Genomic analysis of para-Bombay individuals insouth-eastern China: the possibility of linkage and disequilibrium betweenFUT1 and FUT2. Blood Tranfus 2015;13:472-477.4. Lin-Chu M, Broadberry RE. Blood transfusion in the para-Bombayphenotype. Br J Haematol 1990;75:568-572.Address for Correspondence/Yazışma Adresi: Tze-Kiong ER, M.D.,Asia University Hospital, Division of Laboratory Medicine, Taichung, TaiwanE-mail : tzekiong92@gmail.com ORCID-ID: orcid.org/0000-0002-7068-1652Received/Geliş tarihi: May 29, 2017Accepted/Kabul tarihi: August 04, 2017DOI: 10.4274/tjh.2017.0220375
LETTERS TO THE EDITOR Turk J Hematol 2017;34:356-381A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) CaseDue to a Novel PUS1 MutationPUS1 Geninde Yeni Mutasyon Saptanan Miyopati, Laktik Asidoz, Sideroblastik Anemi (MLASA) OlgusuÇiğdem Seher Kasapkara 1 , Leyla Tümer 1 , Nadia Zanetti 2 , Fatih Ezgü 1 , Eleonora Lamantea 2 , Massimo Zeviani 2,31Gazi University Faculty of Medicine, Division of Metabolism, Ankara, Turkey2Fondazione IRCCS Carlo Besta, Molecular Neurogenetics Unit, Milan, Italy3Medical Research Council, Mitochondrial Biology Unit, Cambridge, United KingdomTo the Editor,The patient, the first child of Turkish first-cousins, was born atterm after an uncomplicated pregnancy. Birth parameters werenormal. The family history was negative for hematological orneurological diseases. The newborn period was characterized byhypoglycemia, lactic acidemia (6.1 mmol/L; normal values: upto 1.9 mmol/L), and lactic, pyruvic, and dicarboxylic aciduria. At10 months of age, hematological examination revealed markedsideroblastic anemia. He started to receive transfusions every3-4 weeks until 14 months of age, when the blood parametersspontaneously normalized. He had exercise intolerance anddelayed motor milestones (walking at 3.5 years of age). At 14years of age, pallor, progressive muscle weakness, and lethargyoccurred and sideroblastic anemia reappeared. The boy hadmild mental insufficiency, profound generalized hypotrophyand weakness, and hyperlordosis of the trunk. He becametransfusion-dependent, requiring packed cell transfusionsevery 2-3 weeks. The muscle biopsy showed subsarcolemmalabnormal mitochondrial aggregates and diffuse negativestaining for cytochrome c oxidase. Due to the paucity of tissue,the biochemical evaluation of respiratory chain complexeswas not performed. The clinical features oriented us towards amitochondrial pathology; CoQ10 was given (400 mg/day) anddramatic improvement of muscle strength was observed withreduction of the frequency of blood transfusions. Unfortunately,the boy died when he was 18 years old due to severe respiratoryfailure.Myopathy, lactic acidosis, and sideroblastic anemia (MLASA)is a rare mitochondrial disease [1]: MLASA1 (MIM #600462)results from mutations in the PUS1 gene, encoding forpseudouridylate synthase 1, and the enzyme is located inboth the nucleus and mitochondria, which is involved in posttranscriptionalmodification of cytoplasmic and mitochondrialtRNAs [2]; MLASA2 (MIM #613561) is caused by mutations inthe YARS2 gene that encodes for the mitochondrial tyrosyltRNAsynthetase [3]; and MLASA3 (MIM #500011) is causedby heteroplasmic mutation m.8969G>A in the mitochondrial-DNA-encoded ATP6 gene (MTATP6) [4].Figure 1. Sequence analysis of the exon 2-intron 2 junction of thePUS1 gene in a control (A), in the patient (B), and in the patient’smother (C). The yellow highlighted nucleotides belong to theconsensus sequence of the splice donor site. In the red circle themutated nucleotide is in homozygous (B) or heterozygous (C) form.Our patient had typical features of MLASA, so we analyzed thenuclear-encoded genes YARS2 and PUS1. YARS2 was normal,but we identified the novel homozygous mutation c.302A>G inexon 2 of the PUS1 gene, causing the substitution p.Gln101Argin the protein (Figure 1). This variant is reported as a singletonin the ExAC browser, accounting for 0.001% of allele frequency,and absent in dbSNP and EVS databases. The p.Gln101Argchange was scored very high for the likelihood to be deleteriousby different bioinformatics tools for predicting pathogenicvariants, and furthermore the c.302A>G transition is predictedto modify the consensus sequence of the splice donor site ofexon 2, probably affecting splicing (Table 1). The unavailabilityof the patient’s cells did not allow us to confirm this hypothesis.376
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