title: A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
abstract: Mutations in the inverted formin-2 (INF2) gene were recently identified in patients with autosomal dominant intermediate Charcot-Marie-Tooth (DI-CMT) disease and focal segmental glomerulosclerosis (FSGS). Here, we identified a novel p.L132P INF2 mutation in a Korean family with DI-CMT and FSGS by whole-exome sequencing. This mutation was cosegregated with affected individuals in the family and was not found in the 300 controls. The two affected members exhibited juvenile onset sensorimotor polyneuropathy and FSGS. Nerve conduction studies showed an intermediate range of motor nerve conduction velocities. We report a novel INF2 mutation in a family with DI-CMT and FSGS as the first case in Koreans. The INF2 mutation appears to be a major cause of CMT with FSGS.
authors.affiliation: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: Hyung J
authors.initials: HJ
authors.lastname: Park
authors.forename: Hye J
authors.initials: HJ
authors.lastname: Kim
authors.forename: Young B
authors.initials: YB
authors.lastname: Hong
authors.forename: Soo H
authors.initials: SH
authors.lastname: Nam
authors.forename: Ki W
authors.initials: KW
authors.lastname: Chung
authors.forename: Byung-Ok
authors.initials: BO
authors.lastname: Choi
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D000080865:Formins; D005923:Glomerulosclerosis, Focal Segmental / Q000150:complications / Q000235:genetics*; D006801:Humans; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*
chemical_list: D000080865:Formins; C546959:INF2 protein, human; D008840:Microfilament Proteins
keywords: Charcot-Marie-Tooth disease; focal segmental glomerulosclerosis; inverted formin-2 gene; whole-exome sequencing