N.P.3 02 Wide clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2 gene

Abstract

Recently we reported the identification of a novel Gypsy founder mutation p.Arg1109X in the SH3TC2 (KIAA 1985) gene in a large kindred, (J Med Genet 2005;42:e69). Here we report an assessment of the phenotypic spectrum of CMT4C in this genetically homogeneous sample. Material and method. The serial includes 11 patients, 9 belong to a large kindred Gypsy background. The other 2 patients belong to two unrelated families. Family 1: genetically homogeneous sample. Family 2: the symptoms of the proband and her affected first cousins siblings (maternal side), began around 5–6 years old.