De Novo Heterozygous Missense Variants in CELSR1 As Cause of Fetal Pleural Effusions and Progressive Fetal Hydrops.

Maayke A. de Koning, Paula A. Pimienta Ramirez，Yunping Lei,Manon Suerink

JOURNAL OF MEDICAL GENETICS（2024）

Leiden Univ Med Ctr | Baylor Coll Med | Radboudumc | Tech Univ Munich | Prenatal Med Munich

Cited 0|Views23

Abstract

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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Key words

Whole Exome Sequencing,Genetic Diseases, Inborn,Genetics, Medical,Human Genetics,Genetic Testing

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【要点】：本文发现CELSR1基因的新型杂合错义突变是导致胎儿胸水及进行性胎儿水肿的原因，并提出了一种新的临床表型关联。

【方法】：通过外显子测序技术检测了两位无血缘关系的女性患者的CELSR1基因，发现新的杂合错义突变。

【实验】：利用多个体外实验，包括细胞定位、细胞间连接、平面细胞极性信号传导和细胞增殖率的检测，验证了CELSR1基因突变对细胞功能的影响。具体数据集名称在论文中未提及。