title: A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome).
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.
authors.affiliation: Department of Endocrinology and Metabolism, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan. madachi@mars.sannet.ne.jp
authors.forename: Masanori
authors.initials: M
authors.lastname: Adachi
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Tachibana
authors.forename: Yumi
authors.initials: Y
authors.lastname: Asakura
authors.forename: Takayoshi
authors.initials: T
authors.lastname: Tsuchiya
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D002648:Child; D005192:Family Health; D005260:Female; D050990:GATA3 Transcription Factor / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D006996:Hypocalcemia / Q000235:genetics; D007011:Hypoparathyroidism / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities; D007674:Kidney Diseases / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017385:Sequence Homology; D013577:Syndrome
chemical_list: D050990:GATA3 Transcription Factor