Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2020
[Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1].
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Ren Ying, Liu Yi, Lyu Yuqiang, Gao Min, Wang Dong, Wan Ya, Ma Jian, Shen Nan, Gai Zhongtao
Аннотация
OBJECTIVE: To explore the genetic etiology of a child with lymphangiectasia and lymphedema.
METHODS: DNA sample of the patient was extracted and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing.
RESULTS: The patient was found to carry compound heterozygote variants (c.521G>A and c.472C>T) of the CCBE1 gene, which were respectively inherited from his parents.
CONCLUSION: The compound heterozygote variants of the CCBE1 gene probably underlie the disease in this child.
METHODS: DNA sample of the patient was extracted and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing.
RESULTS: The patient was found to carry compound heterozygote variants (c.521G>A and c.472C>T) of the CCBE1 gene, which were respectively inherited from his parents.
CONCLUSION: The compound heterozygote variants of the CCBE1 gene probably underlie the disease in this child.