التفاصيل البيبلوغرافية
| العنوان: |
Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier. |
| المؤلفون: |
Alijanpour, Morteza, Jazayeri, Omid, Amiri, Shima Soleimani, Brosens, Erwin |
| المصدر: |
Laboratory Medicine; Nov2022, Vol. 53 Issue 6, p596-601, 6p |
| مصطلحات موضوعية: |
INFANT formulas, GENETIC mutation, SEQUENCE analysis, BLOOD gases analysis, HIGH performance liquid chromatography, SINGLE nucleotide polymorphisms, MOLECULAR pathology, BLOOD collection, ALLELES, GENETIC carriers, MAPLE syrup urine disease, RISK assessment, BIOINFORMATICS, GAS chromatography, TRANSFERASES, HAPLOTYPES, MASS spectrometry, BREASTFEEDING, RESEARCH funding, DESCRIPTIVE statistics, POLYMERASE chain reaction, BLOOD testing, URINALYSIS, LONGITUDINAL method, DISEASE risk factors, SYMPTOMS, CHILDREN |
| مصطلحات جغرافية: |
IRAN |
| مستخلص: |
Objective Maple syrup urine disease (MSUD; OMIM #248600) is an autosomal recessive metabolic disorder in the catabolism of branched-chain amino acids (leucine, isoleucine, and valine) and may be lethal if untreated in affected newborns. Methods Single-nucleotide polymorphism haplotyping and Sanger sequencing of BCKDHA , BCKDHB , and DBT genes were performed in a cohort of 10 MSUD patients. Results We identified a 16.6 Mb homozygous region harboring the DBT gene in an Iranian girl presenting with MSUD. Sanger sequencing revealed a pathogenic homozygous variant (NM_001918.3: c.1174A > C) in the DBT gene. We further found a controversial variant (rs12021720: c.1150 A > G) in the DBT gene. This substitution (p.Ser384Gly) is highly debated in literature. Bioinformatics and cosegregation analysis, along with identifying the real pathogenic variants (c.1174 A > C), lead to terminate these various interpretations of c.1150 A > G variant. Conclusion Our study introduced c.1150 A > G as a polymorphic variant, which is informative for variant databases and also helpful in molecular diagnosis. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
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