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.

doi:10.1007/s00277-012-1628-6

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

Community

Back to search

Article

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.

Annals of hematology - 1 Mar 2013

Seo Ja Young, Song Joon-Sup, Lee Ki-O, Won Hong-Hee, Kim Jong-Won, Kim Sun-Hee, Lee Soo-Hyun, Yoo Keon-Hee, Sung Ki-Woong, Koo Hong Hoe, Kang Hyoung Jin, Shin Hee Young, Ahn Hyo-Seop, Han Dong Kyun, Kook Hoon, Hwang Tai Ju, Lyu Chuhl-Joo, Lee Mi-Jung, Kim Ji-Yoon, Park Sung-Shik, Lim Young-Tak, Kim Bo-Eun, Koh Kyung-Nam, Im Ho Joon, Seo Jong Jin, Kim Hee-Jin

Abstract excerpt

Familial hemophagocytic lymphohistiocytosis (familial HLH or FHL) is a potentially fatal autosomal recessive disorder. Our previous study demonstrated that UNC13D mutations (FHL3) account for ~90 % of FHL in Korea with recurrent splicing mutation c.754-1G>C (IVS9-1G>C). Notably, half of the FHL3 patients had a monoallelic mutation of UNC13D. Deep intronic mutations in UNC13D were recently reported in patients of...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Founder Effect

Share to Haplotypes

Share to Infant

Share to Introns

Share to Lymphohistiocytosis, Hemophagocytic

Share to Membrane Proteins

Share to Republic of Korea

Source

Open in PubMed

Identifiers

PMID: 23180437
DOI: 10.1007/s00277-012-1628-6

Genes

FHL3
FHL2
PRF1

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

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.PMID 23180437Read ↗

The 253‐kb inversion and deep intronic mutations in <i>UNC13D</i> are present in North American patients with familial hemophagocytic lymphohistiocytosis 3Semantic proximity Read ↗

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

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

Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.Semantic proximity Read ↗

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

Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.Semantic proximity Read ↗

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

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

[Analysis of clinical phenotype and genetic variant in a case of familial hemophagocytic lymphohistiocytosis type Ⅲ].Semantic proximity Read ↗

Clinical, immunological and genetic findings in patients with UNC13D deficiency (FHL3): A systematic review.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 ↗

Clinical features, genetics, and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in Korea: report of a nationwide survey from Korea Histiocytosis Working Party.Semantic proximity Read ↗

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