A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation

Haruka Kishi; Teruo Jojima; Takahiko Kogai; Toshie Iijima; Eriko Ohira; Dai Tanuma; Sachiyo Konno; Kanako Kato; Atsumi Kezuka; Kazumi Akimoto; Junko Sakumoto; Akira Hishinuma; Takuya Tomaru; Noriko Makita; Isao Usui; Yoshimasa Aso

doi:10.1002/ccr3.3186

A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation

Clin Case Rep. 2020 Aug 14;8(12):2619-2624. doi: 10.1002/ccr3.3186. eCollection 2020 Dec.

Authors

Affiliations

¹ Department of Endocrinology and Metabolism Dokkyo Medical University Mibu, Tochigi Japan.
² Department of Infection Control and Clinical Laboratory Medicine Dokkyo Medical University Mibu Shimotsuga, Tochigi Japan.
³ Center of Medical Ultrasonics Dokkyo Medical University Mibu Shimotsuga, Tochigi Japan.
⁴ Division of Clinical Science Research Support Center Dokkyo Medical University Mibu Shimotsuga, Tochigi Japan.
⁵ Department of Nephrology and Endocrinology The University of Tokyo Tokyo Japan.

Abstract

Autosomal dominant hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome are typically diagnosed by manifestations of the three features with a positive family history. Our case carried a de novo variant in causative gene, GATA3, but presenting no renal dysplasia or family history. The phenotypic heterogeneity raises a caution for diagnosis.

Keywords: GATA3; HDR syndrome; hypoparathyroidism; sensorineural deafness.

Publication types

Case Reports