Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment.
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.
Kabzińska
D
D
Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
Sinkiewicz-Darol
E
E
Hausmanowa-Petrusewicz
I
I
Kochański
A
A
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
D009185:Myelin Proteins; C073687:PMP22 protein, human; D012694:Serine; D001120:Arginine
Am J Med Genet A. 2007 Sep 15;143A(18):2196-9
17663472
J Neurol Sci. 2005 Oct 15;237(1-2):21-4
15992829
Cell. 1991 Jul 26;66(2):219-32
1677316
J Neurosci Res. 1995 Feb 1;40(2):145-51
7745607
Hum Mutat. 2003 Jan;21(1):100
12497641
Am J Hum Genet. 1999 Jun;64(6):1580-93
10330345
Neuromuscul Disord. 2004 May;14(5):325-8
15099592
Ann Neurol. 2002 Feb;51(2):190-201
11835375
Brain. 1997 Jan;120 ( Pt 1):47-63
9055797
Eur Neurol. 1974;12(4):253-60
4426326
Hum Genet. 2000 Nov;107(5):494-8
11140948
Neurobiol Dis. 1999 Feb;6(1):1-14
10078969
Neurology. 2004 Aug 24;63(4):733-5
15326256
J Med Genet. 1996 Dec;33(12):1048-9
9004143
Am J Med Genet. 1985 Feb;20(2):307-15
3856385
Neurology. 2003 Feb 11;60(3):506-8
12578939
Neuromuscul Disord. 1991;1(2):93-7
1822787
Nat Genet. 1996 Oct;14(2):214-7
8841199