title: X-Linked Hereditary Motor Sensory Neuropathy Type 1 (CMTX1) in a Three-Generation Gelao Chinese Family.
abstract: In this report, we describe a three-generation family (the Gelao nationality, a minority ethnic group from Guizhou Province in the southwest China) with one affected member with Charcot-Marie-Tooth neuropathy X type 1 (CMTX1) in each generation. The three affected members carrying the R164W mutation in the Cx32 gene had different clinical symptoms. The proband, a 13-year-old boy presented recurrent episodes of transient central nervous system symptoms and concomitant transient diffuse white matter lesions on magnetic resonance imaging. His grandfather had the peripheral neurological presentations with later onset in the fourth decade, characterized by slowly progressive weakness of the distal muscles, atrophy, and foot deformities. But no sensory loss was observed. The proband's 38-year-old mother denied any neurological symptoms. The examination was normal except for pes cavus and diminished deep tendon reflexes in her lower limbs bilaterally. Genetic sequencing revealed the proband and his grandfather had a hemizygous mutation (p.164R > W) of CJB1 gene, and his mother had R164W heterozygous mutation. Our three cases denied symptoms of sensory disturbances, the sensory examination including touch, pin prick, and temperature sensation showed no obvious abnormalities. Thus, further investigation is needed to improve our understanding of the Cx32 protein function in the nervous system.
authors.affiliation: Department of Pediatrics, Affiliated Hospital of Zunyi Medical College, Zunyi, Guzhou, China.
authors.forename: Xiao Mei
authors.initials: XM
authors.lastname: Shu
authors.affiliation: Department of Pediatrics, Affiliated Hospital of Zunyi Medical College, Zunyi, Guzhou, China.
authors.forename: Mao Qiang
authors.initials: MQ
authors.lastname: Tian
authors.affiliation: Department of Pediatrics, Affiliated Hospital of Zunyi Medical College, Zunyi, Guzhou, China.
authors.forename: Juan
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Pediatrics, Affiliated Hospital of Zunyi Medical College, Zunyi, Guzhou, China.
authors.forename: Long Ying
authors.initials: LY
authors.lastname: Peng
authors.affiliation: Department of Pediatrics, Affiliated Hospital of Zunyi Medical College, Zunyi, Guzhou, China.
authors.forename: Xiao Hua
authors.initials: XH
authors.lastname: Yu
mesh_terms: D000293:Adolescent; D000328:Adult; D000369:Aged, 80 and over; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002681:China; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005530:Foot Deformities / Q000235:genetics*; D006429:Hemiplegia / Q000235:genetics; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree