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| HEMIZYGOSITY AT THE ELASTIN LOCUS IN A DEVELOPMENTAL DISORDER, WILLIAMS-SYNDROME |
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| Author(s): EWART AK, MORRIS CA, ATKINSON D, JIN WS, STERNES K, SPALLONE P, STOCK AD, LEPPERT M, KEATING MT |
| Source: NATURE GENETICS Volume: 5 Issue: 1 Pages: 11-16 Published: SEP 1993 |
| Times Cited: 514 References: 28 |
| Abstract: Williams syndrome (WS) is a developmental disorder affecting connective tissue and the central nervous system. A common feature of WS, supravalvular aortic stenosis, is also a distinct autosomal dominant disorder caused by mutations in the elastin gene. In this study, we identified hemizygosity at the elastin locus using genetic analyses in four familial and five sporadic cases of WS. Fluorescent in situ hybridization and quantitative Southern analyses confirmed these findings, demonstrating inherited and de novo deletions of the elastin gene. These data indicate that deletions involving one elastin allele cause WS and implicate elastin hemizygosity in the pathogenesis of the disease. |
| Document Type: Article |
| Language: English |
| Reprint Address: EWART, AK (reprint author), UNIV UTAH, DEPT HUMAN GENET, SALT LAKE CITY, UT 84112 USA |
Addresses:
1. UNIV NEVADA, SCH MED, DEPT MICROBIOL, RENO, NV 89502 USA
2. UNIV NEVADA, SCH MED, DEPT PATHOL & LAB MED, RENO, NV 89502 USA
3. UNIV NEVADA, SCH MED, DEPT GENET NETWORK, RENO, NV 89502 USA
4. UNIV UTAH, DIV CARDIOL, SALT LAKE CITY, UT 84112 USA
5. UNIV UTAH, HOWARD HUGHES MED INST, SALT LAKE CITY, UT 84112 USA
6. UNIV UTAH, ECCLES PROGRAM HUMAN MOLEC BIOL & GENET, SALT LAKE CITY, UT 84112 USA
7. UNIV NEVADA, SCH MED, DEPT PEDIAT, LAS VEGAS, NV 89102 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: LV565 |
| ISSN: 1061-4036 |
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