A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type IA with sensorineural deafness

Charcot-Marie-Tooth disease with deafness is a clinically distinct entity and is associated with mutations or deletions in several genes including PMP22 gene. Here, we report a large family showing characteristic phenotypes of Charcot-Marie-Tooth type 1A along with deafness in an autosomal dominant fashion. We detected a sequence variation (c.68C > G) co-segregating with the disease phenotype and leading to a T23R missense mutation in PMP22. (C) 2004 Elsevier B.V. All rights reserved.