Multiple endocrine neoplasia type 1Burin from Mauritius: a novel MEN1 mutation.
We describe a kindred from Mauritius with an incomplete variant of multiple endocrine neoplasia type 1 (MEN 1Burin). In this family the syndrome is related to a novel MEN 1 gene mutation (deletion of A) at nucleotide 1021 of codon 304 resulting in frame shift and downstream protein truncation at codon 320. Compared to mainstream MEN 1, MEN 1Burin is characterized by a high prevalence of prolactin-secreting pituitary adenomas, late-onset of hyperparathyroidism and rare pancreatic involvement. The family described represents the fifth in the literature with the MEN 1 Burin phenotype; 2 out of the other 4 were related to R460X, Y312X respectively and no mutation within the coding sequence of MEN 1 was found in the other 2. Thus, similar to the classic syndrome, MEN 1Burin phenotype shows poor correlation to MEN 1 genotype.
Kong
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C
Department of Endocrinology, Hemel Hempstead General Hospital, Hemel Hempstead, Herts, UK.
Ellard
S
S
Johnston
C
C
Farid
N R
NR
D000236:Adenoma / Q000235:genetics / Q000378:metabolism; D000328:Adult; D014644:Genetic Variation; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics; D008297:Male; D008436:Mauritius; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010190:Pancreatic Neoplasms / Q000235:genetics; D010641:Phenotype; D010911:Pituitary Neoplasms / Q000235:genetics / Q000378:metabolism; D011388:Prolactin / Q000378:metabolism
D011388:Prolactin