母亲体细胞和生殖细胞 FOXP3 镶嵌性导致男孩患 IPEX 综合征。
Somatic and germline FOXP3 mosaicism in the mother of a boy with IPEX syndrome.
机构信息
Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou, China.
Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou, China.
出版信息
Eur J Immunol. 2018 May;48(5):885-887. doi: 10.1002/eji.201747445. Epub 2018 Feb 23.
PMID:29400909
Abstract
Confirmatory Sanger sequencing of whole exome sequencing first identified a somatic and germline FOXP3 mosaicism with two different mutational events of c.210 + 1G > T and c.210 + 1G > A in the mother of a boy with IPEX syndrome.
摘要
采用外显子组测序进行验证性 Sanger 测序，首先在一名 IPEX 综合征男孩的母亲中鉴定出 FOXP3 镶嵌现象，具有两种不同的突变事件 c.210 + 1G > T 和 c.210 + 1G > A，为体细胞和种系嵌合体。
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