| | |  | | | | Record from Web of Science® | | | | | | |
| A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease |
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| Author(s): Navon R, Seifried B, GalOn NS, Sadeh M |
| Source: HUMAN GENETICS Volume: 97 Issue: 5 Pages: 685-687 Published: MAY 1996 |
| Times Cited: 31 References: 20 |
| Abstract: A novel T-->G mutation in exon 4 of the PMP22 gene was identified heterozygously in a girl with severe, de novo CMT1A disease. Duplication of the chromosomal 17p11-12 region, encompassing the PMP22 gene, was ruled out. This is the only known mutation that specifically affects the human fourth transmembrane (TM) domain of PMP22. It results in a substitution of a non-polar amino acid by a polar one (Leu(147)-->Arg), similar to the nearby Gly(150)-->Asp substitution, underlying the severe Trembler phenotype in the mouse. These mutations suggest that the fourth TM domain plays a crucial role in the normal function of PMP22. The new mutation also augments previous observations that diseases caused by mutations in PMP22 are more severe than those caused by the duplication of 17p11-12. |
| Document Type: Article |
| Language: English |
| Reprint Address: Navon, R (reprint author), TEL AVIV UNIV, SACKLER SCH MED, DEPT HUMAN GENET, IL-69978 RAMAT AVIV, ISRAEL |
Addresses:
1. SAPIR MED CTR, MOLEC GENET UNIT, IL-44281 KEFAR SAVA, ISRAEL
2. CHAIM SHEBA MED CTR, DEPT NEUROL, IL-52621 RAMAT GAN, ISRAEL |
| Publisher: SPRINGER VERLAG, 175 FIFTH AVE, NEW YORK, NY 10010 |
| Subject Category: Genetics & Heredity |
| IDS Number: UE049 |
| ISSN: 0340-6717 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |