title: Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome.
abstract: Olmsted syndrome (OS) is a rare genodermatosis that is often difficult to diagnose because of clinical overlap with other disorders and its uncertain mode of inheritance. The molecular basis of OS was investigated in an Indian boy using comparative exome sequencing and Sanger sequencing data. Sequencing identified a G-to-A transition at position c.573 in the TRPV3 gene, producing the missense mutation p.Gly573Ser in the proband. This mutation was not identified in the mother. This study supports the recent finding of TRPV3 as the gene implicated in OS and suggests that the mutation p.Gly573Ser may be a recurrent abnormality in this genodermatosis.
authors: St John's Institute of Dermatology, King's College London (Guy's Campus), London SE1 9RT, U.K.
authors: J E
authors: JE
authors: Lai-Cheong
authors: G
authors: G
authors: Sethuraman
authors: M
authors: M
authors: Ramam
authors: K
authors: K
authors: Stone
authors: M A
authors: MA
authors: Simpson
authors: J A
authors: JA
authors: McGrath
mesh_terms: D002648:Child; D006579:Heterozygote; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D012008:Recurrence; D013577:Syndrome; D050916:TRPV Cation Channels / Q000235:genetics*
chemical_list: D050916:TRPV Cation Channels; C459445:TRPV3 protein, human