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Lookup NU author(s): Professor Rudy Bilous
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Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformafions. Studies in patients with 10p deletions have defined two non-overlapping regions that contribute to this complex phenotype. These are the DiGeorge critical region II (refs 1, 2), which is located on 10p13-14, and the region for the hypoparathyroidism, sensorineural deafness, renal anomaly (HDR) syndrome (Mendelian Inheritnce in Man number 146255), which is located more telomeric (10p14-10pter). We have performed deletion-mapping studies in two HDR patients, and here we define a critical 200-kilobase region which contains the GATA3 gene. This gene belongs to a family of zinc-finger transcription factors that are involved in vertebrate embryonic development. Investigation for GATA3 mutations in three other HDR probands identified one nonsense mutation and two intragenic deletions that predicted a loss of function, as confirmedby absence of DNA binding by the mutant GATA3 protein. These results show that GATA3 is essential in the embryonic development of the parathyroids, auditory system and kidneys, and indicate that other GATA family members may be involved in the aetiology of human malformations.
Author(s): Bilous RW; Van Esch H; Holdaway I; Shaw NJ; Fryns J-P; Van De Ven W; Thakker RV; Devriendt K; Groenen P; Nesbit MA; Schuffenhauer S; Lichtner P; Vanderlinden G; Harding B; Beetz R
Publication type: Article
Publication status: Published
Journal: Nature
Year: 2000
Volume: 406
Pages: 419-422
ISSN (print): 0028-0836
ISSN (electronic): 1476-4687
Publisher: Nature Publishing Group
URL: http://dx.doi.org/10.1038/35019088
DOI: 10.1038/35019088
PubMed id: 10935639
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