IDENTIFICATION OF A HOMOZYGOUS EXON-SKIPPING MUTATION IN THE LAMC2 GENE IN A PATIENT WITH HERLITZS JUNCTIONAL EPIDERMOLYSIS-BULLOSA

JOURNAL OF INVESTIGATIVE DERMATOLOGY

卷:104

Article

VAILLY, J ; PULKKINEN, L ; CHRISTIANO, AM ; TRYGGVASON, K ; UITTO, J ; ORTONNE, JP ; MENEGUZZI, G

关键词: LAMININ;    NICEIN;    KALININ;    BASEMENT MEMBRANE;    DERMOEPIDERMAL JUNCTION;    HEMIDESMOSOME;   

DOI  :  10.1111/1523-1747.ep12666027

来源: Elsevier

【 摘 要 】

We describe a family with the Herlitz type of junctional epidermolysis bullosa, in which the disease is associated with a homozygous splice-site mutation in the gamma 2-chain gene (LAMC2) of laminin-5. The mutation consists of a G-to-T substitution resulting in the out-of-frame skipping of exon 7, a frame shift, and premature stop codon accompanied by a severe reduction in the level of mRNA from the mutant allele. The distribution of the wild-type and mutated gamma 2-chain alleles in family members implicates the mutation in the pathology and confirms the haplotypes of the healthy carriers previously determined by genetic Linkage analysis, Our results confirm that the lethal Herlitz junctional epidermolysis bullosa phenotype is caused by mutations resulting in an altered synthesis of laminin-5.

【 授权许可】

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