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Genotype-phenotype correlation of Charcot-Marie-Tooth type 1E patients with PMP22 mutations

Title
Genotype-phenotype correlation of Charcot-Marie-Tooth type 1E patients with PMP22 mutations
Authors
Kim, Jee YoungKoo, HaesooPark, Kee-DukChoi, Sun SungYu, Jin SeokHong, Young BinChung, Ki WhaChoi, Byung-Ok
Ewha Authors
구혜수박기덕
SCOPUS Author ID
구혜수scopus; 박기덕scopus
Issue Date
2016
Journal Title
GENES & GENOMICS
ISSN
1976-9571JCR Link2092-9293JCR Link
Citation
vol. 38, no. 7, pp. 659 - 667
Keywords
Charcot-Marie-Tooth disease type 1E (CMT1E)GenotypePhenotypePeripheral myelin protein 22 (PMP22)Exome
Publisher
SPRINGER
Indexed
SCIE; SCOPUS; KCI WOS scopus
Abstract
Charcot-Marie-Tooth disease type 1E (CMT1E) is a demyelinating motor and sensory neuropathy with peripheral myelin protein 22 (PMP22) point mutations. The objective of this study was to identify genetic causes and determine genotype-phenotype correlation in two Korean demyelinating CMT patients based on whole exome sequencing (WES), histological examination of distal sural nerve, and magnetic resonance imaging (MRI) of leg. WES revealed two de novo PMP22 mutations in the two demyelinating CMT patients, including one novel p.Leu82Pro (c.245T > A) mutation in one patient and one previously reported p.Ser72Leu (c.215C > T) mutation in the other patient. Both mutation sites were located in the well conserved second transmembrane domain. No control had the same mutations. The affected individual with the novel p.Leu82Pro mutation showed early onset, scoliosis, and sensory ataxia with ability to walk without assistance. Histopathological examination showed severe damage of myelin and axons. No compound muscle action potentials (CMAPs) were evoked in the upper or lower limb nerves. Leg MRIs revealed mild fatty infiltration of the bilateral peronei muscles consistent with clinical manifestations. The patient with the p.Ser72Leu mutation showed developmental delay in infancy. No CMAPs were elicited. However, she was also able to walk without assistance. In spite of markedly severe electrophysiological defects, leg MRIs showed almost normal findings except slight muscle atrophies of the lower legs. Both patients presented similar clinical features including no CMAPs in electrophysiological tests and mild fatty replacement in the lower leg MRI. Therefore, there was a good genotype-phenotype correlation in both cases.
DOI
10.1007/s13258-016-0423-5
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의학전문대학원 > 의학과 > Journal papers
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