Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia

Journal of Pediatric Gastroenterology and Nutrition

Volumn 59, Issue 1, 2014, Pages 17-21

  Gonzaga Jauregui, Claudia ^a   Mir, Sabina ^a   Penney, Samantha ^a   Jhangiani, Shalini ^a   Midgen, Craig ^a   Finegold, Milton ^a   Muzny, Donna M ^a   Wang, Min ^a   Bacino, Carlos A ^a   Gibbs, Richard A ^a   Lupski, James R ^a   Kellermayer, Richard ^a   Hanchard, Neil A ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Chylomicronemia; Colitis; Hyperlipoproteinemia; Lipoprotein lipase; Next generation sequencing

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; GENOMIC DNA; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED HIGH DENSITY LIPOPROTEIN BINDIING PROTEIN 1; LIPOPROTEIN LIPASE; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; GPIHBP1 PROTEIN, HUMAN; LIPOPROTEIN RECEPTOR;

ARTICLE; BLEEDING TENDENCY; CASE REPORT; CLINICAL FEATURE; COLITIS; COLONOSCOPY; EXOME; FAMILY HISTORY; FEMALE; GASTROINTESTINAL HEMORRHAGE; GENE MUTATION; GENE SEQUENCE; HISPANIC; HISTOPATHOLOGY; HUMAN; HYPERLIPOPROTEINEMIA; HYPERTRIGLYCERIDEMIA; INFANT; INFANT DISEASE; NEXT GENERATION SEQUENCING; PHENOTYPE; PLASMA; PRIORITY JOURNAL; COMPLICATION; DNA MUTATIONAL ANALYSIS; GENETICS;

COLITIS; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HUMANS; HYPERTRIGLYCERIDEMIA; INFANT; RECEPTORS, LIPOPROTEIN;

EID: 84925873493     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/MPG.0000000000000363     Document Type: Article

References (43)

1. Feoli-Fonseca JC, Levy E, Godard M, et al. Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study. J Pediatr 1998;133:417-23.
2. Sprecher DL, Taam L, Gregg RE, et al. Identification of an apoC-II variant (apoC-IIBethesda) in a kindred with apoC-II deficiency and type I hyperlipoproteinemia. J Lipid Res 1988;29:273-8.
3. Priore Oliva C, Pisciotta L, Li Volti G, et al. Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia. Arterioscler Thromb Vasc Biol 2005;25:411-7.
4. Peterfy M, Ben-Zeev O, Mao HZ, et al. Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. Nat Genet 2007;39:1483-7.
5. Beigneux AP, Franssen R, Bensadoun A, et al. Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase. Arterioscler Thromb Vasc Biol 2009;29:956-62.
6. Teer JK, Mullikin JC. Exome sequencing: the sweet spot before whole genomes. Hum Mol Genet 2010;19 (R2):R145-51.
7. Bamshad MJ, Shendure JA, Valle D, et al. The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A 2012;158A:1523-5.
8. Ng SB, Bigham AW, Buckingham KJ, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010;42:790-3.
9. Lupski JR, Reid JG, Gonzaga-Jauregui C, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 2010;362:1181-91.
10. Goh V, Helbling D, Biank V, et al. Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure. J Pediatr Gastroenterol Nutr 2011;54:291-4.
11. Murdock DR, Clark GD, Bainbridge MN, et al. Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. Am J Med Genet A 2011;155:2071-7.
12. Worthey EA, Mayer AN, Syverson GD, et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med 2011;13:255-62.
13. Bainbridge MN, Wiszniewski W, Murdock DR, et al. Whole-genome sequencing for optimized patient management. Sci Transl Med 2011; 3:87re3.
14. Gonzaga-Jauregui C, Lupski JR, Gibbs RA. Human genome sequencing in health and disease. Annu Rev Med 2012;63:35-61.
15. Hanchard NA, Murdock DR, Magoulas PL, et al. Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clin Genet 2013;83:457-61.
16. Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 2013;369:1502-11.
17. Lupski JR, Gonzaga-Jauregui C, Yang Y, et al. Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Genome Med 2013;5:57.
18. Shen Y, Wan Z, Coarfa C, et al. A SNP discovery method to assess variant allele probability from next-generation resequencing data. Genome Res 2010;20:273-80.
19. Li H, Handsaker B, Wysoker A, et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 2009;25:2078-9.
20. Gonzaga-Jauregui C, Lotze T, Jamal L, et al. Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol 2013;70:1491-8.
21. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010;38:e164.
22. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-9.
23. Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet 2013Chapter 7(Unit7 20).
24. Choi Y, Sims GE, Murphy S, et al. Predicting the functional effect of amino acid substitutions and indels. PLoS One 2012;7:e46688.
25. Beigneux AP, Davies BS, Bensadoun A, et al. GPIHBP1, a GPIanchored protein required for the lipolytic processing of triglyceriderich lipoproteins. J Lipid Res 2009;50 (suppl):S57-62.
26. Beigneux AP, Davies BS, Gin P, et al. Glycosylphosphatidylinositolanchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons. Cell Metab 2007;5:279-91.
27. Weinstein MM, Yin L, Beigneux AP, et al. Abnormal patterns of lipoprotein lipase release into the plasma in GPIHBP1-deficient mice. J Biol Chem 2008;283:34511-8.
28. Coca-Prieto I, Kroupa O, Gonzalez-Santos P, et al. Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novel GPIHBP1 mutation. J Intern Med 2011;270:224-8.
29. Franssen R, Young SG, Peelman F, et al. Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects. Circ Cardiovasc Genet 2010;3:169-78.
30. Olivecrona G, Ehrenborg E, Semb H, et al. Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia. J Lipid Res 2010;51:1535-45.
31. Rios JJ, Shastry S, Jasso J, et al. Deletion of GPIHBP1 causing severe chylomicronemia. J Inherit Metab Dis 2012;35:531-40.
32. Surendran RP, Visser ME, Heemelaar S, et al. Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. J Intern Med 2012;272:185-96.
33. Wang J, Hegele RA. Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650). Lipids Health Dis 2007;6:23.
34. Alipour A, van Oostrom AJ, Izraeljan A, et al. Leukocyte activation by triglyceride-rich lipoproteins. Arterioscler Thromb Vasc Biol 2008; 28:792-7.
35. Inouye M, Silander K, Hamalainen E, et al. An immune response network associated with blood lipid levels. PLoS Genet 2010;6: e1001113.
36. Nordstoga K, Sorby R, Olivecrona G, et al. Pancreatitis in hyperlipemic mink (Mustela vison). Vet Pathol 2012;49:557-61.
37. Adeyo O, Goulbourne CN, Bensadoun A, et al. Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 and the intravascular processing of triglyceride-rich lipoproteins. J Intern Med 2012;272:528-40.
38. Davies BS, Beigneux AP, Barnes RH 2nd et al. GPIHBP1 is responsible for the entry of lipoprotein lipase into capillaries. Cell Metab 2010;12:42-52.
39. Young SG, Davies BS, Voss CV, et al. GPIHBP1, an endothelial cell transporter for lipoprotein lipase. J Lipid Res 2011;52:1869-84.
40. Wierzbicki AS, Viljoen A. Alipogene tiparvovec: gene therapy for lipoprotein lipase deficiency. Expert Opin Biol Ther 2013;13:7-10.
41. Gaudet D, Methot J, Kastelein J. Gene therapy for lipoprotein lipase deficiency. Curr Opin Lipidol 2012;23:310-20.
42. Shashi V, McConkie-Rosell A, Rosell B, et al. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet Med 2014;16:172-82.
43. Biesecker L. Editorial comment on ''Whole Exome Sequencing Identifies Compound Heterozygous Mutations in WDR62 in Siblings With Recurrent Polymicrogyria.'' Am J Med Genet Part A 2011;155:2069-70.