Reports of Biochemistry and Molecular Biology

en Two Novel Mutations in LAMC2 Gene in Iranian Families Affected by Junctional Epidermolysis Bullosa زیست شناسی ملکولی Molecular Biology مقالات اصلی Original Article <div style="text-align: justify;">Background: Junctional epidermolysis bullosa (JEB) is an autosomal recessive skin disorder with defective adhesion of dermal- epidermal within the lamina lucida region of the basement membrane zone. The main characterization of JEB is blistering and fragile skin and mucous membrane. Laminins are noncollagenous part of basement membrane and classified as a family of extracellular matrix glycoprotein. Laminins contain three chains: Laminin α, Laminin β and Laminin γ. LAMC2 (laminin subunit gamma 2) gene encodes γ subunit of laminin and its mutation contributes to JEB. Here, we report a disease-causing nonsense mutation and a large deletion mutation in LAMC2 gene in two families affected by JEB. Methods: Whole exome sequencing (WES) was carried out on the mother of patient in family I and the patient himself in family II to detect the underlying mutations. Then, sanger sequencing was performed to confirm the identified mutations. Results: Next generation sequencing (NGS) data analysis of the first family showed a novel, nonsense mutation in LAMC2 gene (LAMC2: NM_005562: exon14:c.C2143T: p.R715X). The heterozygous state of the mutation was confirmed by sanger sequencing in the parents and unaffected brother. In Family II, NGS data had no coverage in the large area of LAMC2 gene. Thus, to confirm the possible deletion sanger sequencing was done and blasting of sequence showed the deleted region of 9.4 kb (exon10-17) in LAMC2 gene. Conclusions: In summary, current study reported a novel disease-causing premature termination codon (PTC) mutation in LAMC2 gene and a large deletion mutation in patients affected by JEB.</div> Junctional Epidermolysis Bullosa, LAMC2 gene, Novel mutation, Skin disorder. 597 601 http://rbmb.net/browse.php?a_code=A-10-675-1&slc_lang=en&sid=1 Maryam Taghdiri 100319475328460012439 100319475328460012439 No Department of Genetics, Colleague of science, Kazerun branch, Islamic Azad University, Kazerun, Iran. Sirous Naeimi naeimis@kau.ac.ir. 100319475328460012440 100319475328460012440 Yes Department of Genetics, Colleague of science, Kazerun branch, Islamic Azad University, Kazerun, Iran. Majid Fardaei 100319475328460012441 100319475328460012441 No Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran. Seyd Mohammad Bagher Tabei 100319475328460012442 100319475328460012442 No Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran & Maternal-fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.