title: An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene.
abstract: Kindler syndrome is an inherited skin condition that presents with blistering followed by photosensitivity and a progressive poikiloderma. The disorder results from mutations in the KIND1 gene, encoding the protein kindlin-1, a recently characterized 677-amino acid protein involved in anchorage of the actin cytoskeleton to the extracellular matrix. We report the clinical features of an 11-year-old boy with Kindler syndrome from a consanguineous Indian family and the identification of a homozygous nonsense mutation (C468X) in exon 12 of the KIND1 gene in his genomic DNA. This mutation has not been described previously but is similar to the 17 previously published KIND1 mutations that are all predicted to lead to loss of kindlin-1 protein expression and function. The clinical features in this boy highlight the relevance of kindlin-1 in skin biology, specifically to epidermal adhesion and response to acute and chronic sun exposure. Delineation of this new pathogenic mutation in KIND1 is also useful for genetic counselling in this family and in assessing carrier status in unaffected family members.
authors.affiliation: Department of Dermatology and Venereology, New Delhi, India.
authors.forename: G
authors.initials: G
authors.lastname: Sethuraman
authors.forename: H
authors.initials: H
authors.lastname: Fassihi
authors.forename: G H S
authors.initials: GH
authors.lastname: Ashton
authors.forename: A
authors.initials: A
authors.lastname: Bansal
authors.forename: M
authors.initials: M
authors.lastname: Kabra
authors.forename: V K
authors.initials: VK
authors.lastname: Sharma
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D001483:Base Sequence; D002648:Child; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D010375:Pedigree; D010787:Photosensitivity Disorders / Q000235:genetics; D011038:Rothmund-Thomson Syndrome / Q000235:genetics; D012873:Skin Diseases, Genetic / Q000235:genetics*; D013577:Syndrome
chemical_list: D018389:Codon, Nonsense; D016326:Extracellular Matrix Proteins; C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins