Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine ... View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-06

AUTHORS

Ling Su, Zhikun Lu, Fatao Li, Yongxian Shao, Huiying Sheng, Yanna Cai, Li Liu

ABSTRACT

Maple syrup urine disease (MSUD) is a rare autosomal recessive genetic disorder caused by defects in the catabolism of the branched-chain amino acids (BCAAs). Classic form of MSUD (CMSUD) is caused by mutations in BCKDHA, BCKDHB, DBT genes mostly. In this study, we analyzed the clinical and genetic characteristics of two patients with CMSUD. Two homozygous mutations, c.517G > T (p.Asp173Tyr) and c.503G > A (p.Arg168His), both in the exon 5 of BCKDHB were detected respectively. The novel mutation p.Asp173Tyr of patient A, inherited from his parents, is predicted to affect conformation of protein by computer analysis. The reported mutation p.Arg168His observed in patient B seemed to occur in a maternal uniparental disomy inheritance manner. Review of related literature revealed that most missense mutations in exon 5 of BCKDHB in homozygous genotype often result in CMSUD because of its incorrect conformation, and exon 5 of BCKDHB might be a susceptible region. Thus the novel homozygous mutation p.Asp173Tyr and the founder homozygous mutation p.Arg168His may be responsible for the clinical presentation of the two CMSUD patients, facilitating the future genetic counselling and prenatal diagnosis. More... »

PAGES

765-772

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s11011-017-9959-6

DOI

http://dx.doi.org/10.1007/s11011-017-9959-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1083826251

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28197878


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