An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene

Clinical and Experimental Dermatology

Volumn 30, Issue 3, 2005, Pages 286-288

  Sethuraman, G ^a   Fassihi, H ^b   Ashton, G H S ^b   Bansal, A ^a   Kabra, M ^a   Sharma, V K ^a   McGrath, J A ^b  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^b ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; GENE PRODUCT; GENOMIC DNA; KINDLIN 1; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BLISTER; CASE REPORT; CELL ADHESION; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; CYTOSKELETON; EXON; EXTRACELLULAR MATRIX; GENE; GENETIC COUNSELING; GENODERMATOSIS; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INDIAN; KIND1 GENE; KINDLER SYNDROME; MALE; NONSENSE MUTATION; PHOTOSENSITIVITY; POIKILODERMA; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SCHOOL CHILD; SUN EXPOSURE;

BASE SEQUENCE; CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; HUMANS; MALE; MEMBRANE PROTEINS; NEOPLASM PROTEINS; PEDIGREE; PHOTOSENSITIVITY DISORDERS; ROTHMUND-THOMSON SYNDROME; SKIN DISEASES, GENETIC; SYNDROME;

EID: 17444400430     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2004.01712.x     Document Type: Article

References (6)

1. Kindler T. Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br J Dermatol 1954; 66: 104-11.
2. Ashton GHS. Kindler syndrome. Clin Exp Dermatol 2004; 29: 116-21.
3. Jobard F, Bouadjar B, Caux F et al. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet 2003; 12, 925-35.
4. Siegel DH, Ashton GH, Penagos HG et al. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker proteins UNC-112, causes Kindler syndrome. Am J Hum Genet 2003; 73: 174-87.
5. Has C, Bruckner-Tuderman L. A novel nonsense mutation in Kindler syndrome. J Invest Dermatol 2004; 122: 84-6.
6. Ashton GHS, McLean WHI, South AP et al. Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol 2004; 122: 78-83.