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Information Journal Paper

Title

A NOVEL NONSENSE MUTATION IN EXON 5 OF KIND1 GENE IN AN IRANIAN FAMILY WITH KINDLER SYNDROME

Pages

  403-408

Abstract

 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.

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    APA: Copy

    HEIDARI, MOHAMMAD MEHDI, KHATAMI, MEHRI, KARGAR, SAEED, AZARI, MOJDEH, HOSSEINZADEH, HASSAN, & FALLAH, HAMIDEH. (2016). A NOVEL NONSENSE MUTATION IN EXON 5 OF KIND1 GENE IN AN IRANIAN FAMILY WITH KINDLER SYNDROME. ARCHIVES OF IRANIAN MEDICINE, 19(6), 403-408. SID. https://sid.ir/paper/281379/en

    Vancouver: Copy

    HEIDARI MOHAMMAD MEHDI, KHATAMI MEHRI, KARGAR SAEED, AZARI MOJDEH, HOSSEINZADEH HASSAN, FALLAH HAMIDEH. A NOVEL NONSENSE MUTATION IN EXON 5 OF KIND1 GENE IN AN IRANIAN FAMILY WITH KINDLER SYNDROME. ARCHIVES OF IRANIAN MEDICINE[Internet]. 2016;19(6):403-408. Available from: https://sid.ir/paper/281379/en

    IEEE: Copy

    MOHAMMAD MEHDI HEIDARI, MEHRI KHATAMI, SAEED KARGAR, MOJDEH AZARI, HASSAN HOSSEINZADEH, and HAMIDEH FALLAH, “A NOVEL NONSENSE MUTATION IN EXON 5 OF KIND1 GENE IN AN IRANIAN FAMILY WITH KINDLER SYNDROME,” ARCHIVES OF IRANIAN MEDICINE, vol. 19, no. 6, pp. 403–408, 2016, [Online]. Available: https://sid.ir/paper/281379/en

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