Otopalatodigital spectrum disorder (OPDSD) is characterized by variable phenotypes, including skeletal dysplasia, and is caused by pathogenic variants in filamin A-encoding FLNA. FLNA variants associated with lethal OPDSD primarily alter the CH2 subdomain of the ABD of FLNA. Herein, we report a novel FLNA mutation in a fetus with severe skeletal dysplasia in a pregnant multigravida female with a history of repeated miscarriages and terminations.

中文翻译：

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骨骼发育不良胎儿的一种新的 FLNA 变异体

Otopalatodigital spectrum disorder (OPDSD) 以可变的表型为特征，包括骨骼发育不良，并且是由编码细丝蛋白 A 的FLNA中的致病变异引起的。与致死性 OPDSD 相关的FLNA变异主要改变 FLNA ABD 的 CH2 子域。在此，我们报告了一个新的FLNA突变，该突变发生在一名有反复流产和终止妊娠史的孕妇严重骨骼发育不良的胎儿中。