Identification of a novel insertion mutation in GATA3 with HDR syndrome.
Mino, Yukari 1; Kuwahara, Takashi 2; Mannami, Toshifumi 3; Shioji, Keisuke 1; Ono, Koh 1; Iwai, Naoharu 1,4
[Report]
Clinical & Experimental Nephrology.
9(1):58-61, March 2005.
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: 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.
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