全外显子组测序鉴定出一名患有夏-吉布斯综合征的哥伦比亚患者的新生突变。
Whole-Exome Sequencing Identifies a de novo Mutation in a Colombian Patient with Xia-Gibbs Syndrome.
作者信息
García-Acero Mary, Acosta Johanna
机构信息
Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá, Colombia.
Roosevelt Pediatric Orthopedic Institute, Bogotá, Colombia.
出版信息
Mol Syndromol. 2017 Nov;8(6):308-312. doi: 10.1159/000479357. Epub 2017 Sep 8.
Abstract
Xia-Gibbs syndrome is an autosomal dominant multisystem developmental disorder characterized by global developmental delay, hypotonia, obstructive sleep apnea, seizures, retrocerebellar cysts, delayed myelination, micrognathia, and mild dysmorphic features. Using whole-exome sequencing, we identified a de novo frameshift mutation c.2030_2030delG (p.G677Afs*52) in a Colombian patient, which was absent in both parents. Furthermore, we summarized the phenotypes of patients reported in the literature.
摘要
夏-吉布斯综合征是一种常染色体显性多系统发育障碍，其特征为全面发育迟缓、肌张力减退、阻塞性睡眠呼吸暂停、癫痫发作、小脑后囊肿、髓鞘形成延迟、小颌畸形和轻度畸形特征。通过全外显子组测序，我们在一名哥伦比亚患者中鉴定出一个新生的移码突变c.2030_2030delG（p.G677Afs*52），其父母双方均无此突变。此外，我们总结了文献中报道的患者表型。
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