Maple syrup urine disease and gene mutations in twin neonates

LI Tao; WANG Yu; LI Cui; XU Wei-Wei; NIU Feng-Hai; ZHANG Di

doi:10.7499/j.issn.1008-8830.2016.12.009

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Chinese Journal of Contemporary Pediatrics ›› 2016, Vol. 18 ›› Issue (12) : 1242-1246. DOI: 10.7499/j.issn.1008-8830.2016.12.009

CLINICAL RESEARCH

Maple syrup urine disease and gene mutations in twin neonates

LI Tao, WANG Yu, LI Cui, XU Wei-Wei, NIU Feng-Hai, ZHANG Di

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Abstract

Objective To investigate the clinical features of one pair of twin neonates with maple syrup urine disease (MSUD) in the Chinese Han population and pathogenic mutations in related genes, and to provide guidance for the early diagnosis and treatment of MSUD. Methods The clinical and imaging data of the twin neonates were collected. The peripheral blood samples were collected from the twin neonates and their parents to detect the genes related to MSUD (BCKDHA, BCKDHB, DBT, and DLD). The loci with gene mutations were identified, and a bioinformatic analysis was performed. Results Two mutations were detected in the BCKDHB gene, missense mutation c.304G > A (p.Gly102Arg) and nonsense mutation c.331C > T (p.Arg111^*), and both of them were heterozygotes. The mutation c.304G > A (p.Gly102Arg) had not been reported in the world. Their father carried the missense mutation c.304G > A (p.Gly102Arg), and their mother carried the nonsense mutation c.331C > T (p.Arg111^*). Conclusions The c.331C > T (p.Arg111^*) heterozygous mutation in BCKDHB gene is the pathogenic mutation in these twin neonates and provides a genetic and molecular basis for the clinical features of children with MSUD.

Key words

Maple syrup urine disease / Twin pregnancy / Gene mutation / Neonate

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LI Tao, WANG Yu, LI Cui, XU Wei-Wei, NIU Feng-Hai, ZHANG Di. Maple syrup urine disease and gene mutations in twin neonates[J]. Chinese Journal of Contemporary Pediatrics. 2016, 18(12): 1242-1246 https://doi.org/10.7499/j.issn.1008-8830.2016.12.009

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