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Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.
Hyun, Young Se; Lee, Jinho; Kim, Hye Jin; Hong, Young Bin; Koo, Heasoo; Smith, Alec S T; Kim, Deok-Ho; Choi, Byung-Ok; Chung, Ki Wha.
Affiliation
  • Hyun YS; Department of Biological Sciences, Kongju National University, Gongju, Korea.
  • Lee J; Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • Kim HJ; Department of Biological Sciences, Kongju National University, Gongju, Korea.
  • Hong YB; Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • Koo H; Department of Pathology, Ewha Womans University School of Medicine, Seoul, Korea.
  • Smith AS; Department of Bioengineering, University of Washington, WA, USA.
  • Kim DH; Department of Bioengineering, University of Washington, WA, USA.
  • Choi BO; Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • Chung KW; Neuroscience Center, Samsung Medical Center, Seoul, Korea.
Ann Hum Genet ; 79(6): 460-9, 2015 Nov.
Article in En | MEDLINE | ID: mdl-26400421
Charcot-Marie-Tooth disease type 4H (CMT4H) 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 (p.Arg468Gln and c.1512-2A>C in FC73, p.Met345Thr and c.2043+1G>A (p.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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Microfilament Proteins Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Country/Region as subject: Asia Language: En Journal: Ann Hum Genet Year: 2015 Document type: Article Country of publication: United kingdom

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Microfilament Proteins Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Country/Region as subject: Asia Language: En Journal: Ann Hum Genet Year: 2015 Document type: Article Country of publication: United kingdom