A Novel Nonsense Mutation in Exon 5 of KIND1 Gene in an Iranian Family with Kindler Syndrome.
BACKGROUND
Kindler syndrome (KS) is an autosomal recessive skin disease characterized by actual blistering, photosensitivity and a progressive poikiloderma. The disorder results from rare mutations in the KIND1 gene. This gene contains 15 exons and expresses two kindlin-1 isoforms.


OBJECTIVE
The aim of this investigation was to analyze mutations in the exons 1 to 15 of KIND1 gene in an Iranian family clinically affected with Kindler syndrome.


METHODS
The mutations analysis of 15 coding exons of KIND1 gene was performed with PCR-SSCP and direct sequencing in 14 subjects from one Iranian family clinically affected with Kindler syndrome.


RESULTS
We identified eight new nucleotide changes in KIND1 in this family. These changes were found in g.3892delA, g.3951T>C, g.3962T>G, g.4190G>T, g.7497G>A, g.11076T>C, g.11102C>T and g.13177C>T positions. Among them, the g.13177C>T mutation resulting in the formation of a premature stop codon (Q226X) was detected only in seven affected family individuals as homozygous but was not present in 100 unrelated healthy controls.


CONCLUSIONS
This study suggests that nonsense mutation may lead to incomplete and non-functional protein products and is pathogenic and has meaningful implications for the diagnosis of patients with Kindler syndrome.
Department of Biology, Faculty of Science, Yazd University, Yazd, Iran.
Mohammad Mehdi
MM
Heidari
Department of Biology, Faculty of Science, Yazd University, Yazd, Iran.
Mehri
M
Khatami
Department of Surgery, Shahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences and Health Services, Yazd, Iran.
Saeed
S
Kargar
Department of Biology, Faculty of Science, Yazd University, Yazd, Iran.
Mojdeh
M
Azari
Department of Biology, Faculty of Science, Yazd University, Yazd, Iran.
Hassan
H
Hoseinzadeh
Department of Biology, Faculty of Science, Yazd University, Yazd, Iran.
Hamedeh
H
Fallah
D000293:Adolescent; D000328:Adult; D001768:Blister / Q000235:genetics*; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics*; D004252:DNA Mutational Analysis; D004820:Epidermolysis Bullosa / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007492:Iran; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D010510:Periodontal Diseases / Q000235:genetics*; D010787:Photosensitivity Disorders / Q000235:genetics*; D055815:Young Adult
D018389:Codon, Nonsense; C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins