Document Detail

A novel GATA3 nonsense mutation in a newly diagnosed adult patient of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
MedLine Citation:
PMID:  23186964     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by a GATA3 gene mutation. Here we report a novel mutation of GATA3 in a patient diagnosed with HDR syndrome at the age of 58 with extensive intracranial calcification.
METHODS: A 58-year-old Japanese man showed severe hypocalcemia and marked calcification in the basal ganglia, cerebellum, deep white matter, and gray-white junction on computed tomography (CT). The serum intact parathyroid hormone level was relatively low against low serum calcium concentration. The patient had been diagnosed with bilateral sensorineural deafness in childhood and had a family history of hearing disorders. Imaging studies revealed no renal anomalies. The patient was diagnosed with HDR syndrome, and genetic testing was performed.
RESULTS: Genetic analysis of GATA3 showed a novel nonsense mutation at codon 198 (S198X) in exon 3. The S198X mutation leads to a loss of two zinc finger deoxyribonucleic acid (DNA) binding domains and is considered to be responsible for HDR syndrome.
CONCLUSION: We identified a novel nonsense mutation of GATA3 in an adult patient with HDR syndrome who showed extensive intracranial calcification.
Kazutaka Nanba; Takeshi Usui; Michikazu Nakamura; Yuko Toyota; Keisho Hirota; Tamiko Tamanaha; Sachiko-Tsukamoto Kawashima; Kanako Nakao; Akiko Yuno; Tetsuya Tagami; Mitsuhide Naruse; Akira Shimatsu
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists     Volume:  19     ISSN:  1934-2403     ISO Abbreviation:  Endocr Pract     Publication Date:    2013 Jan-Feb
Date Detail:
Created Date:  2013-02-25     Completed Date:  2013-08-15     Revised Date:  2013-09-11    
Medline Journal Info:
Nlm Unique ID:  9607439     Medline TA:  Endocr Pract     Country:  United States    
Other Details:
Languages:  eng     Pagination:  e17-20     Citation Subset:  IM    
Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan.
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MeSH Terms
GATA3 Transcription Factor / genetics*
Hearing Loss, Sensorineural / genetics*
Hypoparathyroidism / genetics*
Middle Aged
Nephrosis / genetics*
Reg. No./Substance:
0/GATA3 Transcription Factor; 0/GATA3 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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