Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia

Journal of Investigative Dermatology

Volumn 131, Issue 10, 2011, Pages 2017-2025

  Cullinane, Andrew R ^a   Vilboux, Thierry ^a   O'Brien, Kevin ^b   Curry, James A ^a   Maynard, Dawn M ^a   Carlson Donohoe, Hannah ^a   Ciccone, Carla ^a   Markello, Thomas C ^a   Gunay Aygun, Meral ^b   Huizing, Marjan ^a   Gahl, William A ^a,b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; IMMUNOGLOBULIN A; RECOMBINANT GRANULOCYTE COLONY STIMULATING FACTOR;

ADULT; ARTICLE; BLOOD ANALYSIS; CASE REPORT; CELL COUNT; COLON CROHN DISEASE; CROHN DISEASE; ECCHYMOSIS; ECZEMA; EYE EXAMINATION; FEMALE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; NEUTROPENIA; OCULAR ALBINISM; OCULOCUTANEOUS ALBINISM; PNEUMONIA; PRIORITY JOURNAL; SEPTIC SHOCK; TELANGIECTASIA; THROMBOCYTE COUNT; THROMBOCYTOPENIA; URINARY TRACT INFECTION;

EID: 80052840923     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2011.157     Document Type: Article

References (40)

1. Anikster Y, Huizing M, White J et al. (2001) Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet 28:376-80 (Pubitemid 32702429)
2. Bentley DR, Balasubramanian S, Swerdlow HP et al. (2008) Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456:53-9
3. Boissy RE, Zhao H, Oetting WS et al. (1996) Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3". Am J Hum Genet 58:1145-56 (Pubitemid 26153825)
4. Bonilla MA, Gillio AP, Ruggeiro M et al. (1989) Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis. N Engl J Med 320:1574-80 (Pubitemid 19154570)
5. Boztug K, Appaswamy G, Ashikov A et al. (2009) A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 360:32-43
6. Boztug K, Welte K, Zeidler C et al. (2008) Congenital neutropenia syndromes. Immunol Allergy Clin North Am 28:259-75, vii-viii (Pubitemid 351522409)
7. Cheung YY, Kim SY, Yiu WH et al. (2007) Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta. J Clin Invest 117:784-93
8. Costin GE, Valencia JC, Vieira WD et al. (2003) Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4. J Cell Sci 116:3203-12 (Pubitemid 37038968)
9. Dell'Angelica EC, Shotelersuk V, Aguilar RC et al. (1999) Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell 3:11-21 (Pubitemid 29292473)
10. Devriendt K, Kim AS, Mathijs G et al. (2001) Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet 27:313-7 (Pubitemid 32201854)
11. Gnirke A, Melnikov A, Maguire J et al. (2009) Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol 27:182-9
12. Gronskov K, Ek J, Brondum-Nielsen K (2007) Oculocutaneous albinism. Orphanet J Rare Dis 2:43
13. Halaban R, Svedine S, Cheng E et al. (2000) Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism. Proc Natl Acad Sci USA 97:5889-94 (Pubitemid 30367494)
14. Horwitz M, Benson KF, Person RE et al. (1999) Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet 23:433-6
15. Huizing M, Helip-Wooley A, Westbroek W et al. (2008) Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet 9:359-86
16. Johnston JJ, Teer JK, Cherukuri PF et al. (2010) Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet 86:743-8
17. King RA, Oetting WS, Creel D et al. (2002) Abnormalities of pigmentation. In: Emery and Rimoin's Principles and Practice of Medical Genetics. (Rimoin DL, Connor JM, Pyeritz RE, eds). New York: Churchill Livingstone, 3731-85
18. Klein C, Grudzien M, Appaswamy G et al. (2007) HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 39:86-92 (Pubitemid 46026506)
19. Lei KJ, Shelly LL, Pan CJ et al. (1993) Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. Science 262:580-3 (Pubitemid 23350674)
20. Li W, Zhang Q, Oiso N et al. (2003) Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet 35:84-9 (Pubitemid 37048600)
21. Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25:402-8 (Pubitemid 34164012)
22. Martin CC, Bischof LJ, Bergman B et al. (2001) Cloning and characterization of the human and rat islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP) genes. J Biol Chem 276:25197-207
23. Morgan NV, Pasha S, Johnson CA et al. (2006) A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am J Hum Genet 78:160-6 (Pubitemid 41833170)
24. Newton JM, Cohen-Barak O, Hagiwara N et al. (2001) Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet 69:981-8 (Pubitemid 33015813)
25. Ng SB, Buckingham KJ, Lee C et al. (2010) Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42:30-5
26. Ng SB, Turner EH, Robertson PD et al. (2009) Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461:272-6
27. Oh J, Bailin T, Fukai K et al. (1996) Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 14:300-6
28. Otto EA, Hurd TW, Airik R et al. (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet 42:840-50
29. Person RE, Li FQ, Duan Z et al. (2003) Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet 34:308-12 (Pubitemid 36792864)
30. Petrolonis AJ, Yang Q, Tummino PJ et al. (2004) Enzymatic characterization of the pancreatic islet-specific glucose-6-phosphatase-related protein (IGRP). J Biol Chem 279:13976-83 (Pubitemid 38468931)
31. Pigault C, Follenius-Wund A, Schmutz M et al. (1994) Formation of two-dimensional arrays of annexin V on phosphatidylserine-containing liposomes. J Mol Biol 236:199-208 (Pubitemid 24148958)
32. Rinchik EM, Bultman SJ, Horsthemke B et al. (1993) A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361:72-6 (Pubitemid 23020776)
33. Rundshagen U, Zuhlke C, Opitz S et al. (2004) Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. Hum Mutat 23:106-10 (Pubitemid 38200600)
34. Suzuki T, Li W, Zhang Q et al. (2002) Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 30:321-4
35. Teer JK, Bonnycastle LL, Chines PS et al. (2010) Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res 20:1420-31
36. Teer JK, Mullikin JC (2010) Exome sequencing: the sweet spot before whole genomes. Hum Mol Genet 19:R145-51
37. Tomita Y, Takeda A, Okinaga S et al. (1989) Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochem Biophys Res Commun 164:990-6 (Pubitemid 19283942)
38. Toyofuku K, Wada I, Valencia JC et al. (2001) Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins. FASEB J 15:2149-61 (Pubitemid 32927932)
39. Welte K, Zeidler C, Dale DC (2006) Severe congenital neutropenia. Semin Hematol 43:189-95 (Pubitemid 43963504)
40. Zhang Q, Zhao B, Li W et al. (2003) Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 33:145-53 (Pubitemid 36177065)