Jornal de Biomarcadores Moleculares e Diagnóstico

Identification of a Location at Chromosome 19p in a Big Chinese Family with Charcot-Marie-Tooth Disease

Abstract

Fei-Feng Li, Xu-dong Wang, Min-wei Zhu, Hui-wen Xiao, Quan Yang, Xin Shao, Hong-lin Feng, Zhi-Guo Lin and Shu-Lin Liu

Background: Autosomal dominant Charcot Marie Tooth disease (CMT) diseases is an inherited peripheral neuropathies disease, the prevalence is 17-40 per 100,000 individuals 17-40 per 100,000 individuals. The complex genetic mode and large number of CMT causing genes and loci made it is very hard for clinicians and researchers when trying to determine the underlying genetic diagnosis. In this work, we want to identify the cause for a Chinese family with Charcot-Marie-Tooth disease.

Methods: Family history data were recorded. Clinical and Electromyography examinations were performed on the ten affected and ten unaffected family members. All the members were genotyped with microsatellite markers at loci considered to be associated with CMT. Two-point LOD scores were calculated using the Linkage software after genotyping. Some highly suspect genes were excluded by direct sequencing.

Results and Conclusions: The clinical and pathological features were relatively gently, but which became gradually worse, with the increased genetic generation, and the onset age of the affected members. Linkage analysis was obtained at markers D19S433 (LOD score [Z]=2.03, recombination fraction [θ]=0.0) and D19S916 (Z=1.6, θ=0.0). Sequencing the dynamin 2 gene (DNM2) didn’t found any variation in the translated region. There may be some other gene or loci associated with this disease.