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

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  • معلومة اضافية
    • المصدر:
      Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
    • بيانات النشر:
      Original Publication: London : Nature Publishing Group, copyright 2011-
    • الموضوع:
      Genetic Association Studies* ; Heterozygote* ; Mutation*; Asian People/*genetics ; Cystathionine beta-Synthase/*genetics ; Homocystinuria/*genetics; Adolescent ; Adult ; Age of Onset ; Amino Acid Sequence ; Child ; Child, Preschool ; China ; DNA Mutational Analysis ; Female ; Gene Order ; Humans ; Molecular Sequence Data ; Pedigree ; Sequence Alignment ; Young Adult
    • نبذة مختصرة :
      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.
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    • الرقم المعرف:
      EC 4.2.1.22 (Cystathionine beta-Synthase)
    • الموضوع:
      Date Created: 20151216 Date Completed: 20161013 Latest Revision: 20221207
    • الموضوع:
      20240829
    • الرقم المعرف:
      PMC4678370
    • الرقم المعرف:
      10.1038/srep17947
    • الرقم المعرف:
      26667307