title: Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment.
abstract: Among 57 mutations in the peripheral myelin protein 22 gene (PMP22) identified so far in patients affected by Charcot-Marie-Tooth disease (CMT), only 8 have been shown to segregate with a mixed phenotype of CMT and hearing impairment. In this study, we report a new Ser112Arg mutation in the PMP22 gene, identified in a patient with early-onset CMT and slowly progressive hearing impairment beginning in the second decade of life. We suggest that the Ser112Arg mutation in the PMP22 gene might have a causative role in the early-onset CMT with hearing impairment. Thus, our study extends the spectrum of CMT phenotypes putatively associated with PMP22 gene mutations.
authors.affiliation: Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
authors.forename: D
authors.initials: D
authors.lastname: Kabzińska
authors.forename: E
authors.initials: E
authors.lastname: Sinkiewicz-Darol
authors.forename: I
authors.initials: I
authors.lastname: Hausmanowa-Petrusewicz
authors.forename: A
authors.initials: A
authors.lastname: Kochański
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000375:Aging / Q000235:genetics; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001120:Arginine / Q000378:metabolism; D001299:Audiometry; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D017124:Conserved Sequence; D006311:Hearing Disorders / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009185:Myelin Proteins / Q000235:genetics*; D010641:Phenotype; D012694:Serine / Q000235:genetics
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human; D012694:Serine; D001120:Arginine
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