Novel missense COL2A1 variant in a fetus with achondrogenesis type II

Yukari Kobayashi; Yuki Ito; Kosuke Taniguchi; Kana Harada; Michihiro Yamamura; Taisuke Sato; Ken Takahashi; Hiroshi Kawame; Kenichiro Hata; Osamu Samura; Aikou Okamoto

doi:10.1038/s41439-022-00218-5

Novel missense COL2A1 variant in a fetus with achondrogenesis type II

Hum Genome Var. 2022 Nov 15;9(1):40. doi: 10.1038/s41439-022-00218-5.

Authors

Affiliations

¹ Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Minato Ku, Tokyo, Japan.
² Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Minato Ku, Tokyo, Japan. yitoh2012@gmail.com.
³ Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Setagaya ku, Tokyo, Japan.
⁴ Department of Clinical Genetics, The Jikei University School of Medicine, Minato Ku, Tokyo, Japan.

Abstract

Achondrogenesis type II (ACG2) is a lethal skeletal disorder caused by pathogenic variants in COL2A1. We present a fetus with cystic hygroma and severe shortening of the limbs at 14 weeks of gestation. We performed postnatal genetic analysis of the parents and fetus to diagnose the disease. A novel missense variant of COL2A1 [NM_001844.5: c.2987G>A, (p. Gly996Asp)] was identified, which led to the ACG2 diagnosis.