一种截短变异体作为埃斯科瓦尔综合征（一种多翼状胬肉综合征亚型）的病因
A Truncating Variant of as a Cause of Escobar Syndrome: A Multiple Pterygium Syndrome Subtype.
作者信息
Sandweiss Alexander J, Patel Shalinkumar, Bader Mohammad Y, Kylat Ranjit I
机构信息
Department of Pediatrics, University of Arizona College of Medicine, Tucson, Arizona, United States.
Section of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States.
出版信息
J Pediatr Genet. 2020 Aug 26;11(2):144-146. doi: 10.1055/s-0040-1715640. eCollection 2022 Jun.
Escobar syndrome is a milder variant of multiple pterygium syndrome characterized by pterygia, scoliosis, and multiple congenital contractures. It is most frequently due to a genetic variant in , which encodes the γ-subunit of the nicotinic acetylcholine receptor. Though the subunit is considered a "fetal" form and transitions to the "adult" ε-subunit by 33 weeks' gestation, the pathogenic musculoskeletal effects during fetal development render children with this condition permanently affected. We report a neonate with homozygous c.117dupC and discuss some of the downstream clinical effects we observed with this variant.
埃斯科瓦尔综合征是多翼状胬肉综合征的一种较轻型变体，其特征为翼状胬肉、脊柱侧弯和多处先天性挛缩。它最常见的病因是 基因的一种遗传变体，该基因编码烟碱型乙酰胆碱受体的γ亚基。尽管该亚基被认为是“胎儿”形式，并在妊娠33周时转变为“成人”ε亚基，但胎儿发育期间的致病性肌肉骨骼效应使患有这种疾病的儿童受到永久性影响。我们报告了一名患有纯合子 c.117dupC的新生儿，并讨论了我们观察到的这种变体的一些下游临床效应。
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