Discover Community Create You

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

Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH.

BMC medical genetics - 21 Nov 2017

Liu Dongling, Hu Xijiang, Jiang Xiwen, Gao Bo, Wan Cheng, Chen Changying

Abstract excerpt

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a rare but fatal disease caused by uncontrolled proliferation of activated lymphocytes and macrophages. Six genes including SH2D1A, PRF1, UNC13D, STX11, STXBP2 and XIAP were reported as causative genes in most cases. CASE PRESENTATION: Here we report a novel splicing mutation in UNC13D gene, which was identified in an 18-year-old female. Patient was...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to PRF1 gene
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lymphohistiocytosis, Hemophagocytic

Share to Membrane Proteins

Share to Mutation

Share to RNA Splicing

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 29157204
DOI: 10.1186/s12881-017-0489-1
PMCID: PMC5696762

Genes

PRF1
STX11
STXBP2
XIAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH.PMID 29157204Read ↗

Familial Hemophagocytic Lymphohistiocytosis secondary to UNC13D mutation: a report of two cases.Semantic proximity Read ↗

Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.Semantic proximity Read ↗

Clinical and Genetic Analysis of Nine Suspected Familial Haemophagocytic Lymphohistiocytosis Patients for MUNC13-4 Deficiency and Introducing Four Novel Mutations in UNC13D.Semantic proximity Read ↗

Pathogenic Gene Mutations or Variants Identified by Targeted Gene Sequencing in Adults With Hemophagocytic LymphohistiocytosisSemantic proximity Read ↗

UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea.Semantic proximity Read ↗

Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report.Semantic proximity Read ↗

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.Semantic proximity Read ↗

Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from ChinaSemantic proximity Read ↗

Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2.Semantic proximity Read ↗

Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

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