A novel FLNA variant in a fetus with skeletal dysplasia.

ABSTRACT: 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.

SUBMITTER: Oshina K 

PROVIDER: S-EPMC9744731 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature