The MEN2B Due to de Novo Mutation M918T at Algiers

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Introduction: The MEN2B, or Gorlin syndrome is a very rare disorder where there are a medullary cancer of thyroide associated with pheochromocytoma and other clinical signs such as a ganglion – neuromatose or a Marfan syndrome. The MEN2B belongs MEN2 are rare hereditary disease, transmitted as an autosomal dominant mutations linked to the RET proto-oncogene.

Aim(s): In a case of MEN2B whose diagnosis is clinical and biological, the genotypic analysis is required and is based on the detection of mutations in exons 15 or 16 of the RET gene.

Materials and methods: Three patients belonging to three different families diagnosed MEN2B 1 woman aged 23 years and 2 young men aged 19 and 22 years are benefit of genetic analysis. The genetic study to focus on the relatives. DNA extraction was done by the method to salts. Genetic study involved exons 15 and 16, by amplification by PCR followed by sequencing on ABI 3130 Applied Biosystems.

Conference: 13th Annual ENETSConcerence (2016)

Presenting Author:

Authors: Chikouche A,

Keywords: MEN2B, de novo mutation, genotypic analysis,