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

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.

SUBMITTER: Kishi H

PROVIDER: S-EPMC7752573 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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

Kishi Haruka H Jojima Teruo T Kogai Takahiko T Iijima Toshie T Ohira Eriko E Tanuma Dai D Konno Sachiyo S Kato Kanako K Kezuka Atsumi A Akimoto Kazumi K Sakumoto Junko J Hishinuma Akira A Tomaru Takuya T Makita Noriko N Usui Isao I Aso Yoshimasa Y

Clinical case reports 20200814 12

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. ...[more]

PMID: 33363791

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