ReviewJournal of endocrinological investigation2001
Multiple endocrine neoplasia type 1Burin from Mauritius: a novel MEN1 mutation.
Review in Journal of endocrinological investigation, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 15 citations in OpenAlex.
- Current Medical Controversies in Zollinger-Ellison Syndrome.Biomedicines · 2025Review
- Phenotypes Associated With MEN1 Syndrome: A Focus on Genotype-Phenotype Correlations.Frontiers in endocrinology · 2020Review
- Deletion of exons 1-3 of the MEN1 gene in a large Italian family causes the loss of menin expression.Familial cancer · 2014Article
- Variable clinical expression in patients with a germline MEN1 disease gene mutation: clues to a genotype-phenotype correlation.Clinics (Sao Paulo, Brazil) · 2012Review
- Genetic and clinical features of multiple endocrine neoplasia types 1 and 2.Journal of oncology · 2012Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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