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 ... View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2013-03

AUTHORS

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

ABSTRACT

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 European descent. In this study, we performed targeted mutation analyses for deep intronic mutations and investigated on the founder effect in FHL3 in Korean patients. The study patients were 72 children with HLH including those with FHL3 previously reported to have a monoallelic UNC13D mutation. All patients were recruited from the Korean Registry of Hemophagocytic Lymphohistiocytosis. In addition to conventional sequencing of FHL2-4, targeted tests for c.118-308C>T and large intronic rearrangement mutations of UNC13D were performed. Haplotype analysis was performed for founder effects using polymorphic markers in the FHL3 locus. FHL mutations were detected in 20 patients (28 %). Seventeen patients had UNC13D mutations (FHL3, 85 %) and three had PRF1 mutations (FHL2, 15 %). UNC13D:c.118-308C>T was detected in ten patients, accounting for 38 % of all mutant alleles of UNC13D, followed by c.754-1G>C (26 %). Haplotype analyses revealed significantly shared haplotypes in both c.118-308C>T and c.754-1G>C, indicating the presence of founder effects. The deep intronic mutation UNC13D:c.118-308C>T accounts for the majority of previously missing mutations and is the most frequent mutation in FHL3 in Korea. Founder effects of two recurrent intronic mutations of UNC13D explain the unusual predominance of FHL3 in Korea. More... »

PAGES

357-364

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00277-012-1628-6

DOI

http://dx.doi.org/10.1007/s00277-012-1628-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1001917741

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23180437


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