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
摘要
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。
WDR44 Loss-of-Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype.
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.
期刊介绍:
The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:
Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.
Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .