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| EVIDENCE FOR A RECESSIVE PMP22 POINT MUTATION IN CHARCOT-MARIE-TOOTH DISEASE TYPE-1A |
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| Author(s): ROA BB, GARCIA CA, LIU PT, KILLIAN JM, TRASK BJ, SUTER U, SNIPES GJ, ORTIZLOPEZ R, SHOOTER EM, PATEL PI, LUPSKI JR |
| Source: NATURE GENETICS Volume: 5 Issue: 2 Pages: 189-194 Published: OCT 1993 |
| Times Cited: 150 References: 48 |
| Abstract: Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant neuropathy that can be caused by dominant point mutations in PMP22 which encodes a peripheral nerve myelin protein. Usually, CMT1A is caused by the duplication of a 1.5-megabase (Mb) region on chromosome 17p11.2-p12 containing PMP22. Deletion of a similar 1.5-Mb region is associated with hereditary neuropathy with liability to pressure palsies (HNPP), a clinically distinct neuropathy. We have identified a severely affected CMT1 patient who is a compound heterozygote for a recessive PMP22 point mutation, and a 1.5 Mb deletion in 17p11.2-p12. A son heterozygous for the PMP22 point mutation had no signs of neuropathy, while two others heterozygous for the deletion had HNPP, suggesting that point mutations in PMP22 can result in dominant and recessive alleles contributing to CMT1A. |
| Document Type: Article |
| Language: English |
Addresses:
1. BAYLOR COLL MED, INST MOLEC GENET, HOUSTON, TX 77030 USA
2. BAYLOR COLL MED, DEPT NEUROL, HOUSTON, TX 77030 USA
3. BAYLOR COLL MED, CTR HUMAN GENOME, HOUSTON, TX 77030 USA
4. BAYLOR COLL MED, DEPT PEDIAT, HOUSTON, TX 77030 USA
5. LOUISIANA STATE UNIV, SCH MED, DEPT NEUROL, NEW ORLEANS, LA 70122 USA
6. LOUISIANA STATE UNIV, SCH MED, DEPT PATHOL, NEW ORLEANS, LA 70122 USA
7. UNIV WASHINGTON, DEPT MOLEC BIOTECHNOL, SEATTLE, WA 98195 USA
8. SWISS FED INST TECHNOL, DEPT CELL BIOL, CH-8093 ZURICH, SWITZERLAND
9. STANFORD UNIV, MED CTR, SCH MED, DEPT NEUROBIOL, STANFORD, CA 94305 USA
10. STANFORD UNIV, MED CTR, SCH MED, DEPT NEUROPATHOL, STANFORD, CA 94305 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: MA056 |
| ISSN: 1061-4036 |
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