MEN1 gene sequence variant C.[527 G> A] P.[ARG 176 GLN]: Is it pathogenic?

#3416

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare syndrome with a severe impact on quality of life of patients and their relatives and early diagnosis is mandatory. Many single-nucleotide polymorphisms of the MEN1 gene are reported, but only few are pathogenic.

Aim(s): We aim at evaluating the biological significance of the sequence variant (SV) C.[527 G> A] P.[ARG 176 GLN] of the MEN1 gene.

Materials and methods: We studied the frequency of the investigated SV C.[527 G> A] P.[ARG 176 GLN] on exon 3 of the MEN1 gene, detected in a suspected MEN1 patient and her relatives, in a random sample of 167 control subjects by direct sequencing. Carriers were investigated for signs and symptoms correlated to MEN1.

Conference:

Presenting Author:

Authors: Zanata I, Crociara A, Ambrosio M, Bondanelli M, Aliberti L,

Keywords: MEN1, C.[527 G> A] P.[ARG 176 GLN], sequence variant,