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Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families

Title
Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families
Authors
Hyun, Young SeLee, JinhoKim, Hye JinBin Hong, YoungKoo, HeasooSmith, Alec S. T.Kim, Deok-HoChoi, Byung-OkChung, Ki Wha
Ewha Authors
구혜수
SCOPUS Author ID
구혜수scopus
Issue Date
2015
Journal Title
ANNALS OF HUMAN GENETICS
ISSN
0003-4800JCR Link1469-1809JCR Link
Citation
vol. 79, no. 6, pp. 460 - 469
Keywords
Charcot-Marie-Tooth disease type 4H (CMT4H)compound heterozygous mutationsexome sequencingFGD4Koreanperipheral neuropathy
Publisher
WILEY-BLACKWELL
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Charcot-Marie-Tooth disease type 4H 9CMT4H) is an autosomal recessive demyelinating subtype of peripheral enuropathies caused by mutations in the FGD4 gene. Most CMT4H patients are in consanguineous Mediterranean families characterized by early onset and slow progression. We identified two CMT4H patients from a Korean CMT cohort, and performed a detailed genetic and clinical analysis in both cases. Both patients from nonconsanguineous families showed characteristic clinical manifestations of CMT4H including early onset, scoliosis, areflexia, and slow disease progression. Exome sequencing revealed novel compound heterozygous mutations in FGD4 as the underlying cause in both families 9p. Arg468Gln and c.1512-2A> C in FC73, p.Met345Thr and c.2043+ 1G> A 9p. Trp663Trpfs* 30) in FC646). The missense mutations were located in highly conserved RhoGEF and PH domains which were predicted to be pathogenic in nature by in silico modeling. The CMT4H occurrence frequency was calculated to 0.7% in the Korean demyelinating CMT patients. This study is the first report of CMT4H in Korea. FGD4 assay could be considered as a means of molecular diagnosis for sporadic cases of demyelinating CMT with slow progression.
DOI
10.1111/ahg.12134
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의학전문대학원 > 의학과 > Journal papers
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