小眼症
遗传学
小头畸形
生物
错义突变
嵌合体
外显子组测序
生殖系
全球发育迟缓
表型
基因
作者
Anne Marie Jelsig,Birgitte Rode Diness,Sven Kreiborg,Katharina M. Main,Valdemar Larsen,Hanne Hove
标识
DOI:10.1016/j.ejmg.2017.11.012
摘要
Duplications and deletions of Xq26-27 including SOX3 (Xq27.1) have been associated with X-linked mental retardation and isolated growth hormone deficiency (OMIM 300123) or X-linked panhypopituitarism (OMIM 312000). Yet, pathogenic point mutations seem to be extremely rare. We report a family with three affected males with several clinical features including mild intellectual disability, microphthalmia, coloboma, hypopituitarism, facial dysmorphology and dental anomalies, including microcephaly, retrognathia and a solitary median maxillary central incisor amongst other features. Using Whole Exome Sequencing a missense variant in SOX3, NM_005634.2:c.449C>A; p.(Ser150Tyr) was identified. Segregation analysis in the family demonstrated that the variant was inherited through healthy females with its origin in the maternal grandmother showing germline mosaicism. Thus, we report one of the first cases of a pathogenic variant in SOX3 and germline mosaicism of this variant.
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