title: Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.
abstract: We investigated the manifestations of CMT4C disease in a genetically homogeneous group of patients homozygous for the recently identified Gypsy founder mutation p.Arg1109X in SH3TC2. We observed a surprising degree of variation in age at onset, rate of progression, extent and severity of motor and sensory involvement, scoliosis, and cranial nerve involvement, suggesting that the phenotypic spectrum of CMT4C disease is much broader than the classical diagnostic criteria. Phenotype similarity in first degree relatives and increasing heterogeneity in more distantly related subjects point to the involvement of genetic modifiers, possibly variants in the genes encoding protein partners interacting with SH3TC2.
authors.affiliation: Servei de Neurologia, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: Jaume
authors.initials: J
authors.lastname: Colomer
authors.forename: Rebecca
authors.initials: R
authors.lastname: Gooding
authors.forename: Dora
authors.initials: D
authors.lastname: Angelicheva
authors.forename: Rosalind H M
authors.initials: RH
authors.lastname: King
authors.forename: Encarna
authors.initials: E
authors.lastname: Guillén-Navarro
authors.forename: Yesim
authors.initials: Y
authors.lastname: Parman
authors.forename: Andres
authors.initials: A
authors.lastname: Nascimento
authors.forename: Joan
authors.initials: J
authors.lastname: Conill
authors.forename: Luba
authors.initials: L
authors.lastname: Kalaydjieva
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D018703:Founder Effect; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D011506:Proteins / Q000235:genetics*; D006178:Romani People / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C488620:SH3TC2 protein, human