Tam P Sneddon, Kelly L Gilmore, Mai Xiong, Karen E Weck, Bradford C Powell, Neeta L Vora
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引用次数: 0
Abstract
Gain-of-function variants in the WDR44 gene have recently been associated with an X-linked ciliopathy-related neurodevelopmental phenotype. Here, we report on a WDR44 loss-of-function (LOF) variant identified in the genome sequence from a male fetus enrolled in the Prenatal Genetic Diagnosis by Genomic Sequencing (PrenatalSEQ) multicenter study. The phenotype is consistent with the described X-linked ciliopathy that includes developmental delay, microcephaly, congenital heart defects, kidney abnormalities, cryptorchidism, musculoskeletal abnormalities, craniofacial dysmorphism, and effusions. This is the first report of a WDR44 LOF variant in an affected individual with a prenatal presentation and supports LOF as a mechanism for the X-linked WDR44 ciliopathy-related phenotype.
最近，WDR44 基因的功能增益变异与 X 连锁纤毛症相关的神经发育表型有关。在此，我们报告了在基因组测序产前基因诊断（PrenatalSEQ）多中心研究中一名男性胎儿的基因组序列中发现的 WDR44 功能缺失（LOF）变体。其表型与所描述的 X 连锁纤毛虫病一致，包括发育迟缓、小头畸形、先天性心脏缺陷、肾脏异常、隐睾、肌肉骨骼异常、颅面畸形和渗出。这是首例在产前表现的受影响个体中发现WDR44 LOF变体的报告，并支持LOF是X连锁WDR44纤毛症相关表型的一种机制。
期刊介绍：
Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance.
Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
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