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| MUTATIONS IN THE ALPHA-1 SUBUNIT OF THE INHIBITORY GLYCINE RECEPTOR CAUSE THE DOMINANT NEUROLOGIC DISORDER, HYPEREKPLEXIA |
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| Author(s): SHIANG R, RYAN SG, ZHU YZ, HAHN AF, OCONNELL P, WASMUTH JJ |
| Source: NATURE GENETICS Volume: 5 Issue: 4 Pages: 351-358 Published: DEC 1993 |
| Times Cited: 292 References: 36 |
| Abstract: Hereditary hyperekplexia, or familiar startle disease (STHE), is an autosomal dominant neurologic disorder characterized by marked muscle rigidity of central nervous system origin and an exaggerated startle response to unexpected acoustic or tactile stimuli. Linkage analyses in several large families provided evidence for locus homogeneity and showed the disease gene was linked to DNA markers on the long arm of chromosome 5. Here we describe the identification of point mutations in the gene encoding the alpha(1) subunit of the glycine receptor (GLRA1) in STHE patients from four different families. All mutations occur in the same base pair of exon 6 and result in the substitution of an uncharged amino acid (leucine or glutamine) for Arg271 in the mature protein. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV CALIF IRVINE, DEPT BIOL CHEM, IRVINE, CA 92717 USA
2. UNIV TEXAS, HLTH SCI CTR, DEPT PEDIAT, SAN ANTONIO, TX 78284 USA
3. UNIV TEXAS, HLTH SCI CTR, DEPT PATHOL, SAN ANTONIO, TX 78284 USA
4. UNIV WESTERN ONTARIO, DEPT CLIN NEUROL STUDIES, LONDON, ON CANADA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: ML145 |
| ISSN: 1061-4036 |
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