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Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family.

Abstract
The cystathionine β-synthase (CBS) gene has been shown to be related to homocystinuria. This study was aimed to detect the mutations in CBS in a Han Chinese family with homocystinuria. A four-generation family from Shandong Province of China was recruited in this study. All available members of the family underwent comprehensive medical examinations. Genomic DNA was collected from peripheral blood of all the participants. The coding sequence of CBS was amplified by polymerase chain reaction (PCR), followed by direct DNA sequencing. Among all the family members, three affected individuals showed typical clinical features of homocystinuria. Two novel compound heterozygous mutations in the CBS gene, c.407T > C (p. L136P) and c.473C > T (p.A158V), were identified by sequencing analysis in this family. Both of the two missense mutations were detected in the three patients. Other available normal individuals, including the patients' parents, grand parents, her younger sister and brother in this family either carried one of the two mutations, or none. In addition, the two mutations were not found in 600 ethnically matched normal controls. This study provides a mutation spectrum of CBS resulting in homocystinuriain a Chinese population, which may shed light on the molecular pathogenesis and clinical diagnosis of CBS-associated homocystinuria.
AuthorsBo Gong, Liping Liu, Zhiwei Li, Zimeng Ye, Ying Xiao, Guangqun Zeng, Yi Shi, Yumeng Wang, Xiaoyun Feng, Xiulan Li, Fang Hao, Xiaoqi Liu, Chao Qu, Yuanfeng Li, Guoying Mu, Zhenglin Yang
JournalScientific reports (Sci Rep) Vol. 5 Pg. 17947 (Dec 15 2015) ISSN: 2045-2322 [Electronic] England
PMID26667307 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Cystathionine beta-Synthase
Topics
  • Adolescent
  • Adult
  • Age of Onset
  • Amino Acid Sequence
  • Asian People (genetics)
  • Child
  • Child, Preschool
  • China
  • Cystathionine beta-Synthase (genetics)
  • DNA Mutational Analysis
  • Female
  • Gene Order
  • Genetic Association Studies
  • Heterozygote
  • Homocystinuria (genetics)
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Sequence Alignment
  • Young Adult

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