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. © 2022. The Author(s).

Citation

Kyoko Oshina, Yoshimasa Kamei, Asuka Hori, Fuyuki Hasegawa, Kosuke Taniguchi, Ohsuke Migita, Atsuo Itakura, Kenichiro Hata. A novel FLNA variant in a fetus with skeletal dysplasia. Human genome variation. 2022 Dec 13;9(1):45

PMID: 36509760

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