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| WAARDENBURG SYNDROME TYPE-2 CAUSED BY MUTATIONS IN THE HUMAN MICROPHTHALMIA (MITF) GENE |
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| Author(s): TASSABEHJI M, NEWTON VE, READ AP |
| Source: NATURE GENETICS Volume: 8 Issue: 3 Pages: 251-255 Published: NOV 1994 |
| Times Cited: 347 References: 15 |
| Abstract: Waardenburg syndrome type 2 (WS2) is a dominantly inherited syndrome of hearing loss and pigmentary disturbances. We recently mapped a WS2 gene to chromosome 3p12.3-p14.1 and proposed as a candidate gene MITF, the human homologue of the mouse microphthalmia (mi) gene. This encodes a putative basic-helix-loop-helix-leucine zipper transcription factor expressed in adult skin and in embryonic retina, otic vesicle and hair follicles. Mice carrying mi mutations show reduced pigmentation of the eyes and coat, and with some alleles, microphthalmia, hearing loss, osteopetrosis and mast cell defects. Here we show that affected individuals in two WS2 families have mutations affecting splice sites in the MITF gene. |
| Document Type: Article |
| Language: English |
Addresses:
1. ST MARYS HOSP, DEPT MED GENET, MANCHESTER M13 0JH, LANCS ENGLAND
2. UNIV MANCHESTER, CTR AUDIOL, MANCHESTER M13 9PL, LANCS ENGLAND |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: PP765 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |