A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation. Issue 12 (14th August 2020)

• Record Type: Journal Article
• 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
• Is Part Of: Clinical case reports. Volume 8:Issue 12(2020)
• Page Start: 2619
• Page End: 2624
• Publication Date: 2020-08-14
• Subjects: GATA3 -- HDR syndrome -- hypoparathyroidism -- sensorineural deafness; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.3186
• Languages: English
• ISSNs: 2050-0904

Abstract

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. 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.