Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2020
[Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Yang Dongmei, Wang Xizhen, Yang Jian, Liu Dongzhi, Li Dongxiao
Аннотация
OBJECTIVE: To explore the clinical and genetic characteristics of a child featuring developmental delay.
METHODS: The child was subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.
RESULTS: Whole genome sequencing revealed that the child has carried compound heterozygous variants c.2607-1G>C and c.899 + 2dupT of the RAB3GAP1 gene, which were respectively derived from her mother and father.
CONCLUSION: A rare case of Warburg micro syndrome type 1 was diagnosed. The phenotype of the child was consistent with the literature, in addition with dysplasia of palatine arch, prominent high palatal arch and tooth dysplasia. Above finding has provided a basis for genetic counseling and prenatal diagnosis for the family.
METHODS: The child was subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.
RESULTS: Whole genome sequencing revealed that the child has carried compound heterozygous variants c.2607-1G>C and c.899 + 2dupT of the RAB3GAP1 gene, which were respectively derived from her mother and father.
CONCLUSION: A rare case of Warburg micro syndrome type 1 was diagnosed. The phenotype of the child was consistent with the literature, in addition with dysplasia of palatine arch, prominent high palatal arch and tooth dysplasia. Above finding has provided a basis for genetic counseling and prenatal diagnosis for the family.