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J Med Genet 2001;38:374-380 ( June )

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

Koji Muroyaa b, Tomonobu Hasegawaa, Yoshiya Itoc, Toshiro Nagaid, Haruhiko Isotanie, Yasuyoshi Iwataf, Keiichi Yamamotoa, Shinji Fujimotog, Sotofumi Seishuh, Yoshimitsu Fukushimai, Yukihiro Hasegawaj, Tsutomu Ogataa b

a Department of Paediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan, b Department of Paediatrics, Tokyo Electric Power Company Hospital, Tokyo, Japan, c Department of Paediatrics, Asahikawa Medical College, Asahikawa, Japan, d Department of Paediatrics, Dokkyo University School of Medicine, Koshigaya Hospital, Koshigaya, Japan, e Department of Internal Medicine, Hirakata City Hospital, Hirakata, Japan, f Department of Internal Medicine, Kurashiki Chuo Hospital, Kurashiki, Japan, g Department of Paediatrics, Nagoya City University Medical School, Nagoya, Japan, h Department of Paediatrics, Noto General Hospital, Nanao, Japan, i Department of Hygiene and Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan, j Endocrinology, Metabolism, and Genetics Unit, Tokyo Metropolitan Kiyose Children's Hospital,Kiyose, Japan

Correspondence to: Dr Muroya, komur{at}mx6.ttcn.ne.jp

Revised version received 28 February 2001; Accepted for publication 1 March 2001

We report on GATA3 analysis and the phenotypic spectrum in nine Japanese families with the HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) (MIM 146255). Fluorescence in situ hybridisation and microsatellite analyses showed heterozygous gross deletions including GATA3 in four families. Sequence analysis showed heterozygous novel mutations in three families: a missense mutation within the first zinc finger domain at exon 4 (T823A, W275R), an unusual mutation at exon 4 (900insAA plus 901insCCT or C901AACCCT) resulting in a premature stop at codon 357 with loss of the second zinc finger domain, and a nonsense mutation at exon 6 (C1099T, R367X). No GATA3 abnormalities were identified in the remaining two families. The triad of HDR syndrome was variably manifested by patients with GATA3 abnormalities. The results suggest that HDR syndrome is primarily caused by GATA3 haploinsufficiency and is associated with a wide phenotypic spectrum.


Keywords: GATA3; HDR syndrome; phenotypic spectrum; mutation analysis

© 2001 by J Med Genet


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