Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2020
[Clinical and genetic analysis of a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity].
СтатьяНазвание и аннотация: Перевод в очереди
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Zhang Jianwei, Huang Ke, Dong Guanping
Аннотация
OBJECTIVE: To explore the genetic basis for a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity.
METHODS: High-throughput sequencing and Sanger sequencing were used to analyze potential variant of the B3GALT6 gene.
RESULTS: DNA sequencing has identified 2 variants of the B3GALT6 gene in the patient, namely c.694C>T and c.539_540insCCT, which were respectively derived from his father and mother.
CONCLUSION: The c.694C>T and c.539_540insCCT variants of the B3GALT6 gene probably underlie the disease in the patient. The result has enabled molecular diagnosis, genetic counseling and prenatal diagnosis for his family.
METHODS: High-throughput sequencing and Sanger sequencing were used to analyze potential variant of the B3GALT6 gene.
RESULTS: DNA sequencing has identified 2 variants of the B3GALT6 gene in the patient, namely c.694C>T and c.539_540insCCT, which were respectively derived from his father and mother.
CONCLUSION: The c.694C>T and c.539_540insCCT variants of the B3GALT6 gene probably underlie the disease in the patient. The result has enabled molecular diagnosis, genetic counseling and prenatal diagnosis for his family.