Detection and analysis of BTNL2 gene mutations in patients diagnosed with skin sarcoidosis

Sarcoidosis is a non-caseous granulomatous disease that can involve several organs such as lung, kidney, liver, heart and skin. In systemic sarcoidosis, skin lesions occur in 20-35% of patients. Cutaneous sarcoidosis with no systemic involvement was found in about 25% of patients. Mutation within Butyrophilin-like 2 (BTNL2) gene, rs2076530 was reported in systemic sarcoidosis. However, there is no report of evaluation of mutation in BTNL2 gene with the diagnosis of skin sarcoidosis. In this study ten patients with skin sarcoidosis were evaluated for the mutation of rs2076530 allele in exon 5 of BTNL2 gene. This assessment was performed by the single strand conformation polymerase chain reaction (SSCP-PCR) in which the existing mutations with positive shift were deteced using directl sequence analysis. Data from sequence analysis were evaluated and blusted by means of Choroms computer software. Our results showed the BTNL2 G-A transition of rs2076530 in seven patients and three patients were normal. This pilot study concludes the presence of a mutation at rs2076530 in exon 5 of BTNL2 gene in patients with skin sarcoidosis. Larger studies are needed to evaluate the role of this finding.