PMID: 16509533Mar 3, 2006Paper

A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome)

Journal of Pediatric Endocrinology & Metabolism : JPEM
Masanori AdachiTakayoshi Tsuchiya

Abstract

We report here on a girl and her father with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome). The proband, an 11 year-old girl, complained of periodic tetany lasting for 6 years, and also used a hearing aid because of sensorineural hearing impairment. Furthermore, she had hemimegalencephaly, and had been taking an anti-epileptic agent to treat psychomotor seizures for 6 years. Endocrine assessment showed modest hypocalcemia, hyperphosphatemia and hypophosphaturia with lower normal parathyroid hormone concentration, and she had no renal abnormalities. Her father, who was 40 years old at the time of the investigation, had sensorineural hearing impairment, a lower than normal calcium level and normal renal function. Direct sequencing after PCR amplification of genomic DNA revealed a novel insertional mutation (405insC) in the GATA3 gene of both patients. This mutation was hypothesized to disrupt dual zinc fingers as well as one transactivating domain. The present findings lend additional support to the notion that the phenotype cannot be precisely estimated from the genotype in HDR syndrome.

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Citations

Dec 2, 2010·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Masaaki OhtaEiichi Ishii
Jan 5, 2008·Molecular Endocrinology·Robert S VigerMarkku Heikinheimo
Dec 3, 2009·Endocrine Journal·Koji MuroyaTsutomu Ogata
Dec 16, 2010·Endocrine Journal·Akie NakamuraToshihiro Tajima
Oct 12, 2012·European Journal of Pediatrics·Alexis ChenouardGwenaelle Roussey
Apr 18, 2015·Annals of Pediatric Endocrinology & Metabolism·Yong Suk ShimSeung Yang
Mar 14, 2014·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Wade Wei-De ChienCarmen Brewer
Feb 28, 2009·American Journal of Medical Genetics. Part a·Silvio FerrarisAlberto Ponzone
Apr 18, 2018·American Journal of Medical Genetics. Part a·Amin J BarakatOwen M Rennert
Sep 1, 2018·Revista de salud pública·Michael A Vallejo-UrregoAdriana González
Jun 13, 2013·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Jagriti UpadhyayJeff M Milunsky

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