The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3

Pediatric Blood and Cancer

Volumn 61, Issue 6, 2014, Pages 1034-1040

  Qian, Yaping ^a,b   Johnson, Judith A ^a   Connor, Jessica A ^a   Valencia, C Alexander ^a,b   Barasa, Nathaniel ^a   Schubert, Jeffery ^a   Husami, Ammar ^a   Kissell, Diane ^a   Zhang, Ge ^a   Weirauch, Matthew T ^a   Filipovich, Alexandra H ^a   Zhang, Kejian ^a,b  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

Familial hemophagocytic lymphohistiocytosis (FHL); Hemophagocytic lymphohistiocytosis (HLH); Intronic mutation; Inversion; UNC13D

Indexed keywords

TRANSCRIPTION FACTOR ETS;

253 KB INVERSION; ADOLESCENT; ADULT; AFRICAN AMERICAN; ARTICLE; ASIAN; CAUCASIAN; CELL LYSATE; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; ETHNIC DIFFERENCE; EXON; FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 3; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; GEOGRAPHIC DISTRIBUTION; HEMOPHAGOCYTIC SYNDROME; HETEROZYGOSITY; HISPANIC; HUMAN; HUMAN TISSUE; INTRON; KOREAN; MALE; NONSENSE MUTATION; NORTH AMERICA; PREVALENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; UNC13D GENE; WESTERN BLOTTING;

FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS (FHL); HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS (HLH); INTRONIC MUTATION; INVERSION; UNC13D;

ADOLESCENT; ADULT; AFRICAN AMERICANS; ARABS; ASIAN AMERICANS; CHILD; CHROMOSOME INVERSION; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC TESTING; HISPANIC AMERICANS; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MEMBRANE PROTEINS; NORTH AMERICA; POINT MUTATION; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84901708185     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.24955     Document Type: Article

References (28)

1. Freeman HR, Ramanan AV. Review of haemophagocytic lymphohistiocytosis. Arch Dis Child 2011; 96:688-693.
2. Filipovich AH, Hemophagocytic lymphohistiocytosis related disorders. Curr Opin Allergy Clin Immunol 2006; 6:410-415.
3. Henter JI, Tondini C, Pritchard J. Histiocyte disorders. Crit Rev Oncol Hematol 2004; 50:157-174.
4. Janka GE, Hemophagocytic syndromes. Blood Rev 2007; 21:245-253.
5. Stepp SE, Dufourcq-Lagelouse R, Le Deist F, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 1999; 286:1957-1959.
6. Feldmann J, Callebaut I, Raposo G, et al. Munc13-14 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell 2003; 115:461-473.
7. Zur Stadt U, Beutel K, Kolberg S, et al. Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: Molecular and functional analyses of PRF1 UNC13D, STX11, and RAB27A. Hum Mutat 2006; 27:62-68.
8. Côte M, Ménager MM, Burgess A, et al. Munc18-12 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest 2009; 119:3765-3773.
9. Zhang K, Filipovich AH, Johnson J, et al. Hemophagocytic lymphohistiocytosis, familial [internet]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviewsTM. Seattle (WA): University of Washington; 1993 [cited 2013 9, July], available from: http://www.ncbi.nlm.nih.gov/books/NBK1444/
10. Filipovich AH, Zhang K, Snow AL, et al. X-linked lymphoproliferative syndromes: Brothers or distant cousins? Blood 2010; 116:3398-3408.
11. Rigaud S, Fondanèche M-C, Lambert N, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 2006; 444:110-114.
12. Westbroek W, Adams D, Huizing M, et al. Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. J Invest Dermatol 2007; 127:2674-2677.
13. Bizario JCS, Feldmann J, Castro FA, et al. Griscelli syndrome: Characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene. J Clin Immunol 2004; 24:397-410.
14. Enders A, Zieger B, Schwarz K, et al. Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood 2006; 108:81-87.
15. Neeft M, Wieffer M, de Jong AS, et al. Munc13-14 is an effector of Rab27a and controls secretion of lysosomes in hematopoietic cells. Mol Biol Cell 2005; 16:731-741.
16. Shirakawa R, Higashi T, Tabuchi A, et al. Munc13-14 is a GTP-Rab27-binding protein regulating dense core granule secretion in platelets. J Biol Chem 2004; 279:10730-10737.
17. Zhang K, Biroschak J, Glass DN, et al. Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-polymorphisms. Arthritis Rheum 2008; 58:2892-2896.
18. Santoro A, Cannella S, Trizzino A, et al. Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3. Haematologica 2008; 93:1086-1090.
19. Meeths M, Chiang SCC, Wood SM, et al. Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. Blood 2011; 118:5783-5793.
20. Entesarian M, Chiang SCC, Schlums H, et al. Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3. Br J Haematol 2013; 162:415-418.
21. Yoon HS. Kim H-J, Yoo K-H, et al. UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis. Haematologica 2010; 95:622-626.
22. Desmet F-O, Hamroun D, Lalande M, et al. Human Splicing Finder: An online bioinformatics tool to predict splicing signals. Nucleic Acids Res 2009; 37:e67.
23. Richards CS, Bale S, Bellissimo DB, et al. ACMG recommendations for standards for interpretation and reporting of sequence variations. Revisions 2007. Genet Med Off J Am Coll Med Genet 2008; 10:294-300.
24. Seo JY, Song J-S, Lee K-O, et al. 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. Ann Hematol 2013; 92:357-364.
25. ENCODE Project Consortium, Bernstein BE, Birney E, et al. An integrated encyclopedia of DNA elements in the human genome. Nature 2012; 489:57-74.
26. Rosenbloom KR, Sloan CA, Malladi VS, et al. ENCODE data in the UCSC genome browser: Year 5 update. Nucleic Acids Res 2013; 41:D56-D63.
27. Murphy MJ. Necrotizing palisaded granulomatous dermatitis as a manifestation of familial hemophagocytic lymphohistiocytosis. J Cutan Pathol 2010; 37:907-910.
28. Sieni E, Cetica V, Santoro A, et al. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. J Med Genet 2011; 48:343-352.