骨骼发育不良胎儿的FLNA新变异。

IF 1 Q4 GENETICS & HEREDITY Human Genome Variation Pub Date : 2022-12-13 DOI:10.1038/s41439-022-00224-7

Kyoko Oshina, Yoshimasa Kamei, Asuka Hori, Fuyuki Hasegawa, Kosuke Taniguchi, Ohsuke Migita, Atsuo Itakura, Kenichiro Hata

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摘要

耳鸣数字谱系障碍(OPDSD)的特点是表型可变，包括骨骼发育不良，是由丝蛋白a编码FLNA的致病性变异引起的。与致死性OPDSD相关的FLNA变异主要改变FLNA ABD的CH2亚结构域。在这里，我们报告了一个新的FLNA突变的胎儿严重骨骼发育不良的怀孕多胎女性与反复流产和终止妊娠的历史。

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A novel FLNA variant in a fetus with skeletal dysplasia.

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.

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