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Article

GATA3 abnormalities in six patients with HDR syndrome.

Endocrine journal - 1 Jan 2011

Fukami Maki, Muroya Koji, Miyake Tetsuo, Iso Manami, Kato Fumiko, Yokoi Hisashi, Suzuki Yoshimi, Tsubouchi Koji, Nakagomi Yoshiko, Kikuchi Nobuyuki, Horikawa Reiko, Ogata Tsutomu

Abstract excerpt

GATA3 mutations cause HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome and, consistent with the presence of the second DiGeorge syndrome locus (DGS2) proximal to GATA3, distal 10p deletions often leads to HDR and DiGeorge syndromes. Here, we report on six Japanese patients with GATA3 abnormalities. Cases 1-5 had a normal karyotype, and case 6 had a 46,XX,del(10)(p15) karyotype. Cases...

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Share to Chromosomes, Human, Pair 10
Share to DiGeorge Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

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Share to Hearing Loss, Sensorineural

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Source

Identifiers

PMID: 21242646
DOI: 10.1507/endocrj.k10e-234

Genes

GATA3

Variants

Provenance

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