错义突变
生物
外显子组测序
先证者
胎儿
胎儿水肿
产前诊断
遗传学
突变
基因
怀孕
作者
Maayke A de Koning,Paula Andrea Pimienta Ramírez,Monique C. Haak,Xiao Han,Martina Ruiterkamp-Versteeg,Nicole de Leeuw,Ulrich Schatz,Moneef Shoukier,Esther Rieger‐Fackeldey,JU Ortiz,Sjoerd G. van Duinen,Willemijn M. Klein,Ruben S G M Witlox,Richard H. Finnell,Gijs W.E. Santen,Yunping Lei,Manon Suerink
标识
DOI:10.1136/jmg-2023-109698
摘要
Fetal hydrops as detected by prenatal ultrasound usually carries a poor prognosis depending on the underlying aetiology. We describe the prenatal and postnatal clinical course of two unrelated female probands in whom de novo heterozygous missense variants in the planar cell polarity gene CELSR1 were detected using exome sequencing. Using several in vitro assays, we show that the CELSR1 p.(Cys1318Tyr) variant disrupted the subcellular localisation, affected cell-cell junction, impaired planar cell polarity signalling and lowered proliferation rate. These observations suggest that deleterious rare CELSR1 variants could be a possible cause of fetal hydrops.
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