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Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial isolated hyperprolactinemia.
Hum Mutat. 2000 Sep; 16(3):269.HM

Abstract

Multiple endocrine neoplasia type 1 (MEN-1) is characterized by hyperfunction and tumor formation of the parathyroids, anterior pituitary and endocrine pancreas. We carried out exon-specific, PCR-based DNA sequencing of the coding exons of the MEN1 gene in 8 Israeli MEN1 patients: 4 familial and 4 sporadic. We similarly analyzed Israeli families with a unique phenotype of isolated hyperprolactinemia (HPRL). Four mutations were detected in 4 MEN1 patients: C to T alteration at nucleotide 2608 resulting in R108X, and three intronic insertions/deletions (a 13 basepair (bp) deletion and a 1 bp insertion both in intron 1, and a 2 bp insertion in intron 3) leading to exonic frame shifts as they encompass the splice junctions. An additional patient exhibited a compound mutation: a G to T change at position 7614 resulting in E463X, and insertion/deletion of 9 bp at position 7622-7630 resulting in EAE466-468X. Haplotype analysis showed no segregation of phenotype with 11q13 markers in 4 familial HPRL, and no men 1 germline mutations were detected in three representative individuals, from 3 families. Our results confirm that men 1 gene germline mutations occur in the majority of patients with clinically diagnosed MEN1, and that familial HPRL is a genetically distinct disorder.

Authors+Show Affiliations

The Susanne Levy Gertner Oncogenetics Unit, Endocrine Institute, the Chaim Sheba Medical Center, Tel-Hashomer, 52621, Israel.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

10980535

Citation

Jakobovitz-Picard, O, et al. "Mutation Analysis of the MEN1 Gene in Israeli Patients With MEN1 and Familial Isolated Hyperprolactinemia." Human Mutation, vol. 16, no. 3, 2000, p. 269.
Jakobovitz-Picard O, Olchovsky D, Berezin M, et al. Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial isolated hyperprolactinemia. Hum Mutat. 2000;16(3):269.
Jakobovitz-Picard, O., Olchovsky, D., Berezin, M., Ghodsizade, A., Zahavi, Z., Karasik, A., Rechavi, G., & Friedman, E. (2000). Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial isolated hyperprolactinemia. Human Mutation, 16(3), 269.
Jakobovitz-Picard O, et al. Mutation Analysis of the MEN1 Gene in Israeli Patients With MEN1 and Familial Isolated Hyperprolactinemia. Hum Mutat. 2000;16(3):269. PubMed PMID: 10980535.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial isolated hyperprolactinemia. AU - Jakobovitz-Picard,O, AU - Olchovsky,D, AU - Berezin,M, AU - Ghodsizade,A, AU - Zahavi,Z, AU - Karasik,A, AU - Rechavi,G, AU - Friedman,E, PY - 2000/9/12/pubmed PY - 2001/2/28/medline PY - 2000/9/12/entrez SP - 269 EP - 269 JF - Human mutation JO - Hum Mutat VL - 16 IS - 3 N2 - Multiple endocrine neoplasia type 1 (MEN-1) is characterized by hyperfunction and tumor formation of the parathyroids, anterior pituitary and endocrine pancreas. We carried out exon-specific, PCR-based DNA sequencing of the coding exons of the MEN1 gene in 8 Israeli MEN1 patients: 4 familial and 4 sporadic. We similarly analyzed Israeli families with a unique phenotype of isolated hyperprolactinemia (HPRL). Four mutations were detected in 4 MEN1 patients: C to T alteration at nucleotide 2608 resulting in R108X, and three intronic insertions/deletions (a 13 basepair (bp) deletion and a 1 bp insertion both in intron 1, and a 2 bp insertion in intron 3) leading to exonic frame shifts as they encompass the splice junctions. An additional patient exhibited a compound mutation: a G to T change at position 7614 resulting in E463X, and insertion/deletion of 9 bp at position 7622-7630 resulting in EAE466-468X. Haplotype analysis showed no segregation of phenotype with 11q13 markers in 4 familial HPRL, and no men 1 germline mutations were detected in three representative individuals, from 3 families. Our results confirm that men 1 gene germline mutations occur in the majority of patients with clinically diagnosed MEN1, and that familial HPRL is a genetically distinct disorder. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/10980535/Mutation_analysis_of_the_MEN1_gene_in_Israeli_patients_with_MEN1_and_familial_isolated_hyperprolactinemia_ L2 - https://doi.org/10.1002/1098-1004(200009)16:3<269::AID-HUMU11>3.0.CO;2-2 DB - PRIME DP - Unbound Medicine ER -