title: Identification of a novel insertion mutation in GATA3 with HDR syndrome.
abstract: Recently, a member of the GATA-binding family of transcription factors was shown to be involved in human hypoparathyroidism, sensorineural deafness, and renal abnormality (HDR) syndrome. We report here a Japanese family in which two of the members are affected with HDR syndrome. Sequence analysis of GATA3 showed a heterozygous novel mutation in this family: an unusual mutation at exon 3 (709insC) resulting in a premature stop at codon 302 with a loss of both of the zinc finger domains.
authors.affiliation: Department of Epidemiology, Research Institute, National Cardiovascular Center, 5-7-1 Fujishiro-dai, Suita, Osaka 565-8565, Japan.
authors.forename: Yukari
authors.initials: Y
authors.lastname: Mino
authors.forename: Takashi
authors.initials: T
authors.lastname: Kuwahara
authors.forename: Toshifumi
authors.initials: T
authors.lastname: Mannami
authors.forename: Keisuke
authors.initials: K
authors.lastname: Shioji
authors.forename: Koh
authors.initials: K
authors.lastname: Ono
authors.forename: Naoharu
authors.initials: N
authors.lastname: Iwai
mesh_terms: D000328:Adult; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D018389:Codon, Nonsense; D018388:Codon, Terminator; D000013:Congenital Abnormalities / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D050990:GATA3 Transcription Factor; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities*; D008875:Middle Aged; D008969:Molecular Sequence Data; D017434:Protein Structure, Tertiary; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics*; D016335:Zinc Fingers
chemical_list: D018389:Codon, Nonsense; D018388:Codon, Terminator; D004268:DNA-Binding Proteins; D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human; D015534:Trans-Activators