ABSTRACT
The first in the Russian Federation clinical cases of patients with autosomal-recessive type of hereditary motor and sensory neuropathy, type 4A, (HMSN 4A) are presented. In all cases, the diagnosis has been verified using molecular-genetic methods (DNA diagnostics). An analysis of features of clinical manifestations was performed in patients, aged from 5 to 34 years, with different disease duration (from 3-to 29 years). Criteria of selection of patients for DNA diagnostics for searching mutations in the GDAP1 gene are specified.
Subject(s)
Hereditary Sensory and Motor Neuropathy/diagnosis , Hereditary Sensory and Motor Neuropathy/genetics , Nerve Tissue Proteins/genetics , Adolescent , Adult , Amino Acid Substitution/genetics , Child , Child, Preschool , DNA/analysis , DNA/genetics , Female , Hereditary Sensory and Motor Neuropathy/physiopathology , Humans , Leucine/genetics , Male , Mutation , Phenylalanine/genetics , Russia , Young AdultABSTRACT
Hereditary motor and sensory neuropathy type 1X (HMSN 1X) is the second most frequent form of demyelinating polyneuropathies and is caused by mutations in the gene for connexin 32 protein (Cx32, GJB1). The contribution of HMSN 1X to the structure of HMSN in the Republic of Bashkortostan was determined. The GJB1 mutations were detected in 18 out of 131 unrelated patients, which constituted 13.7%. The four missense mutations identified were represented by: Pro87Ala (c.259C>G) with the frequency of 10%; Arg22Gln (c.65G>A) (2.98%); Arg15Gln (c.44G>A); and Thr86Ile (c.257CSubject(s)
Amino Acid Substitution
, Charcot-Marie-Tooth Disease/genetics
, Connexins/genetics
, Linkage Disequilibrium
, Mutation, Missense
, Polymorphism, Genetic
, Alleles
, Bashkiria/ethnology
, Charcot-Marie-Tooth Disease/diagnosis
, Charcot-Marie-Tooth Disease/ethnology
, Female
, Founder Effect
, Humans
, Male
, Microsatellite Repeats/genetics
, Quantitative Trait Loci/genetics
, Gap Junction beta-1 Protein