title: Novel and recurrent FERMT1 gene mutations in Kindler syndrome.
abstract: Kindler syndrome (OMIM 173650) is an autosomal recessive condition characterized by skin blistering, skin atrophy, photosensitivity, colonic inflammation and mucosal stenosis. Fewer than 100 cases have been described in the literature. First reported in 1954, the molecular basis of Kindler syndrome was elucidated in 2003 with the discovery of FERMT1 (KIND1) loss-of-function mutations in affected individuals. The FERMT1 gene encodes kindlin-1 (also known as fermitin family homologue 1), a 77 kDa protein that localizes at focal adhesions, where it plays an important role in integrin signalling. In the current study, we describe five novel and three recurrent loss-of-function FERMT1 mutations in eight individuals with Kindler syndrome, and provide an overview of genotype-phenotype correlation in this disorder.
authors.affiliation: St John’s Institute of Dermatology, King’s College London, UK.
authors.forename: Tanasit
authors.initials: T
authors.lastname: Techanukul
authors.forename: Gomathy
authors.initials: G
authors.lastname: Sethuraman
authors.forename: Abraham
authors.initials: A
authors.lastname: Zlotogorski
authors.forename: Liran
authors.initials: L
authors.lastname: Horev
authors.forename: Michal
authors.initials: M
authors.lastname: Macarov
authors.forename: Alison
authors.initials: A
authors.lastname: Trainer
authors.forename: Kenneth
authors.initials: K
authors.lastname: Fong
authors.forename: Marko
authors.initials: M
authors.lastname: Lens
authors.forename: Ljiljana
authors.initials: L
authors.lastname: Medenica
authors.forename: Venkatesh
authors.initials: V
authors.lastname: Ramesh
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
authors.forename: Joey E
authors.initials: JE
authors.lastname: Lai-Cheong
mesh_terms: D001768:Blister / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D030541:Databases, Genetic; D004820:Epidermolysis Bullosa / Q000235:genetics / Q000473:pathology; D005060:Europe; D005767:Gastrointestinal Diseases / Q000235:genetics / Q000473:pathology; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India; D007557:Israel; D008565:Membrane Proteins / Q000235:genetics*; D009059:Mouth Diseases / Q000235:genetics / Q000473:pathology; D009092:Mucous Membrane / Q000473:pathology; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D010510:Periodontal Diseases / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D010787:Photosensitivity Disorders / Q000235:genetics / Q000473:pathology; D012867:Skin / Q000473:pathology; D014570:Urologic Diseases / Q000235:genetics / Q000473:pathology; D014739:Victoria
chemical_list: C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins