ArticleHuman genetics1996
A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease.
Article in Human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 36 citations in OpenAlex.
- Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation.Neurogenetics · 2022Article
- C-terminal tail length guides insertion and assembly of membrane proteins.The Journal of biological chemistry · 2020Article
- Update on Charcot-Marie-Tooth disease.Current neurology and neuroscience reports · 2011Review
- Therapeutic strategies for the inherited neuropathies.Neuromolecular medicine · 2006Article
- A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.American journal of human genetics · 1999Article
- Inherited neuropathies: from gene to disease.Brain pathology (Zurich, Switzerland) · 1999Review
- Animal models for inherited peripheral neuropathies.Journal of anatomy · 1997Review
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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 (Leu147-->Arg), similar to the nearby Gly150-->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.
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