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

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 ph...

Full description

Saved in:
Bibliographic Details
Published in:Clinical case reports 2020, Vol.8 (12), p.2619-2624
Main Authors: Kishi, Haruka, Jojima, Teruo, Kogai, Takahiko, Iijima, Toshie, Ohira, Eriko, Tanuma, Dai, Konno, Sachiyo, Kato, Kanako, Kezuka, Atsumi, Akimoto, Kazumi, Sakumoto, Junko, Hishinuma, Akira, Tomaru, Takuya, Makita, Noriko, Usui, Isao, Aso, Yoshimasa
Format: Report
Language:English
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.3186