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INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
Park, Jin Hee; Kwon, Hye Mi; Nam, Da Eun; Kim, Hye Jin; Nam, Soo Hyun; Kim, Sang Beom; Choi, Byung-Ok; Chung, Ki Wha.
Afiliación
  • Park JH; Department of Biological Sciences, Kongju National University, Gongju, South Korea.
  • Kwon HM; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Nam DE; Department of Biological Sciences, Kongju National University, Gongju, South Korea.
  • Kim HJ; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Nam SH; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Kim SB; Cell & Gene Theraphy Institute, Samsung Medical Center, Seoul, South Korea.
  • Choi BO; Department of Neurology, Kyung Hee University Hospital at Gangdong, Kyung Hee University School of Medicine, Seoul, Republic of Korea.
  • Chung KW; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
J Peripher Nerv Syst ; 28(1): 108-118, 2023 03.
Article en En | MEDLINE | ID: mdl-36637069
Mutations in INF2 are associated with the complex symptoms of Charcot-Marie-Tooth disease (CMT) and focal segmental glomerulosclerosis (FSGS). To date, more than 100 and 30 genes have been reported to cause these disorders, respectively. This study aimed to identify INF2 mutations in Korean patients with CMT. This study was conducted with 743 Korean families with CMT who were negative for PMP22 duplication. In addition, a family with FSGS was included in this study. INF2 mutations were screened using whole exome sequencing (WES) and filtering processes. As the results, four pathogenic INF2 mutations were identified in families with different clinical phenotypes: p.L78P and p.L132P in families with symptoms of both CMT and FSGS; p.C104Y in a family with CMT; and p.R218Q in a family with FSGS. Moreover, different CMT types were observed in families with CMT symptoms: CMT1 in two families and Int-CMT in another family. Hearing loss was observed in two families with CMT1. Pathogenicity was predicted by in silico analyses, and considerable conformational changes were predicted in the mutant proteins. Two mutations (p.L78P and p.C104Y) were unreported, and three families showed de novo mutations that were putatively occurred from fathers. This study suggests that patients with INF2 mutations show a broad phenotypic spectrum: CMT1, CMT1 + FSGS, CMTDIE + FSGS, and FSGS. Therefore, the genotype-phenotype correlation may be more complex than previously recognized. We believe that this study expands the clinical spectrum of patients with INF2 mutations and will be helpful in the molecular diagnosis of CMT and FSGS.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glomeruloesclerosis Focal y Segmentaria / Enfermedad de Charcot-Marie-Tooth / Forminas Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Corea del Sur Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glomeruloesclerosis Focal y Segmentaria / Enfermedad de Charcot-Marie-Tooth / Forminas Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Corea del Sur Pais de publicación: Estados Unidos