Human Genome Variation (Dec 2022)

A novel FLNA variant in a fetus with skeletal dysplasia

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

DOI
https://doi.org/10.1038/s41439-022-00224-7
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 3

Abstract

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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.