We report a rare case of X-linked recessive Charcot-Marie-Tooth disease (CMTXR) in a Chinese male with a nucleotide variation of c.110T>C (p.Va137A1a) in gap junction protein beta 1 (GJB1) gene. To our knowledge, this is the first report linking the c.110T>C (p.Va137A1a) variant in the GJB1 gene to CMTXR. A 43-year-old Chinese man presented with poor movement of lower limbs for more than twenty years, recurrent lumbar pain for five years and difficulty walking for one month. The patient displayed tetraparesis. He suffered from amyotrophy of hypothenar eminences, bilateral leg muscles and thenar, pes cavus, and the disappearance of tendon reflexes in both lower limbs. The pathological signs were negative. The patient's grandfather and elder male cousin had similar symptoms. We performed genetic testing on the patient and his immediate family members. Results showed that the patient had a nucleotide variation (c.110T>C) in the GJB1 gene located on the X-chromosome that resulted in an amino acid change (p.Va137A1a). No large fragment variations in the PMP22 gene were found. Testing of the patient's immediate family members showed that his mother, younger sister, daughter, and third nephew were heterozygous carriers of the c.110T>C GJB1 gene variant.
[1]Dalian Med Univ, Hosp 2, Dept Neurol, 467 Zhongshan Rd, Dalian 116027, Liaoning, Peoples R China.
[2]Jilin Univ, China Japan Union Hosp, Anesthesiol Dept, Changchun, Liaoning, Peoples R China.
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