A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation

Moe Kusakawa; Takeshi Sato; Ai Hosoda; Eriko Araki; Yohei Matsuzaki; Yukio Yamashita; Jun Ishihara; Yoshinori Inagaki; Noboru Uchida; Tomohiro Ishii; Tomonobu Hasegawa

doi:10.1038/s41439-019-0087-1

A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation

Hum Genome Var. 2019 Dec 23:6:55. doi: 10.1038/s41439-019-0087-1. eCollection 2019.

Authors

Affiliations

¹ 1Department of Pediatrics, Yokohama Municipal Citizen's Hospital, 56 Okazawa-cho, Hodogaya-ku, Yokohama, Kanagawa Japan.
² 2Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo Japan.
³ 3Department of Neonatology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, Kanagawa Japan.

Abstract

HDR syndrome (OMIM #146255) is caused by haploinsufficiency of the GATA3 gene. A vascular ring has not been reported in patients with GATA3-associated HDR syndrome. We report a neonatal case of HDR syndrome and a vascular ring that were possibly due to a novel frameshift mutation in the GATA3 gene.

Keywords: Congenital heart defects; Mutation; Parathyroid diseases.