Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel in-frame deletion in MEN1 (p.Ala416del) causes familial multiple endocrine neoplasia type 1 with an aggressive phenotype and unexpected inheritance pattern.

Molecular medicine reports - 1 Sept 2016

Skalniak Anna, Sokołowski Grzegorz, Jabrocka-Hybel Agata, Piątkowski Jakub, Białas Magdalena, Gilis-Januszewska Aleksandra, Pach Dorota, Hubalewska-Dydejczyk Alicja

Abstract excerpt

The present study describes a family with multiple endocrine neoplasia type 1 (MEN1) caused by a previously undescribed in-frame deletion c.1246_1248delGCC (Ala416del) in the MEN1 gene. Evidence for the pathogenic character of this mutation, which triggers an aggressive clinical outcome, is demonstrated. Aggregation analysis in the tested family was strongly suggestive of causality of the detected mutation. This...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Inheritance Patterns
Share to Loss of Heterozygosity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Models, Molecular

Share to Multiple Endocrine Neoplasia Type 1

Share to Protein Conformation

Share to Proto-Oncogene Proteins

Share to Reading Frames

Share to Sequence Deletion

Source

Identifiers

PMID: 27430871
DOI: 10.3892/mmr.2016.5462

Genes

MEN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel in-frame deletion in MEN1 (p.Ala416del) causes familial multiple endocrine neoplasia type 1 with an aggressive phenotype and unexpected inheritance pattern.PMID 27430871Read ↗

The MEN1 gene and associated diseases: an update.Semantic proximity Read ↗

Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.Semantic proximity Read ↗

Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the geneSemantic proximity Read ↗

Phenotypes Associated With MEN1 Syndrome: A Focus on Genotype-Phenotype Correlations.Semantic proximity Read ↗

UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French PopulationSemantic proximity Read ↗

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.Semantic proximity Read ↗

Analysis of MEN1 c.482G>A (p.Gly161Asp) mutation in a pedigree with familial multiple endocrine neoplasia type 1.Semantic proximity Read ↗

The future: genetics advances in MEN1 therapeutic approaches and management strategiesSemantic proximity Read ↗

Five novel mutations in the familial multiple endocrine neoplasia type 1 (MEN1) gene. Mutations in brief no. 188. Online.Semantic proximity Read ↗

A large Turkish pedigree with multiple endocrine neoplasia type 1 syndrome carrying a rare mutation: c.1680_1683 del TGAG.Semantic proximity Read ↗

A novel likely pathogenetic variant p.(Cys235Arg) of the MEN1 gene in multiple endocrine neoplasia type 1 with multifocal glucagonomas.Semantic proximity Read ↗

Genetic test in multiple endocrine neoplasia type 1 syndrome: An evolving storySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.