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:10.1038/s41439-022-00224-7

A novel FLNA variant in a fetus with skeletal dysplasia

Hum Genome Var. 2022 Dec 13;9(1):45. doi: 10.1038/s41439-022-00224-7.

Authors

Kyoko Oshina^{1

2}, Yoshimasa Kamei³, Asuka Hori¹, Fuyuki Hasegawa⁴, Kosuke Taniguchi¹, Ohsuke Migita^{5

6}, Atsuo Itakura², Kenichiro Hata^{1

7}

Affiliations

¹ Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
² Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.
³ Department of Obstetrics and Gynecology, Saitama Medical University Hospital, Saitama, Japan.
⁴ Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan.
⁵ Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan. migita-o@ncchd.go.jp.
⁶ Department of Laboratory Medicine, St. Marianna University, School of Medicine, Kanagawa, Japan. migita-o@ncchd.go.jp.
⁷ Department of Human Molecular Genetics, Gunma University Graduate School of Medicine, Gunma, Japan.

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.

Abstract

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