Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

Genetics in Medicine

Volumn 14, Issue 6, 2012, Pages 594-603

  Aradhya, Swaroop ^a   Lewis, Rachel ^a   Bonaga, Tahrra ^a   Nwokekeh, Nnenna ^a   Stafford, Amanda ^a   Boggs, Barbara ^a   Hruska, Kathleen ^a   Smaoui, Nizar ^a   Compton, John G ^a   Richard, Gabriele ^a   Suchy, Sharon ^a  

^a GENEDX   (United States)

Author keywords

array CGH; copy number; deletion; duplication; exon; Mendelian

Indexed keywords

ACROCEPHALOSYNDACTYLY; AGAMMAGLOBULINEMIA; ALAGILLE SYNDROME; ALSTROM SYNDROME; ANGIONEUROTIC EDEMA; ANIRIDIA; ARTICLE; AXENFELD RIEGER SYNDROME; BANNAYAN RILEY RUVALCABA SYNDROME; BASAL CELL NEVUS SYNDROME; BIRT HOGG DUBE SYNDROME; BRANCHIOOTORENAL SYNDROME; CAMPOMELIC DYSPLASIA; COFFIN LOWRY SYNDROME; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; COWDEN SYNDROME; DIAGNOSTIC TEST; DUANE RADIAL RAY SYNDROME; ECTODERMAL DYSPLASIA; EEC SYNDROME; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXON; FEINGOLD SYNDROME; FEMALE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC DISORDER; GLYCOGEN STORAGE DISEASE TYPE 2; GOLTZ SYNDROME; HEREDITARY MULTIPLE EXOSTOSIS; HOLT ORAM SYNDROME; HOMOCYSTINURIA; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; LARON SYNDROME; LEIOMYOMATOSIS; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; MENDELIAN DISORDER; MICROPHTHALMIA; MULTIPLE ENDOCRINE NEOPLASIA; NORRIE DISEASE; ORNITHINE TRANSCARBAMYLASE DEFICIENCY; OSTEOGENESIS IMPERFECTA; PARAGANGLIOMA; PEUTZ JEGHERS SYNDROME; PHENYLKETONURIA; RETINOSCHISIS; RETT SYNDROME; RUBINSTEIN SYNDROME; SEVERE COMBINED IMMUNODEFICIENCY; SMITH LEMLI OPITZ SYNDROME; SMITH MAGENIS SYNDROME; SOTOS SYNDROME; SUBTELOMERIC DELETION SYNDROME; VAN DER WOUDE SYNDROME; VON HIPPEL LINDAU DISEASE;

COHORT STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; EXONS; FEMALE; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENETIC DISEASES, INBORN; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MENDELIAN RANDOMIZATION ANALYSIS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA;

EID: 84861844982     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2011.65     Document Type: Article

References (85)

1. Pispa J. Animal biotinidase. Ann Med Exp Biol Fenn 1965;43(suppl 5):1-39.
2. Wolf B. Disorders of biotin metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill: New York, 2001:3935-3962.
3. Craft DV, Goss NH, Chandramouli N, Wood HG. Purification of biotinidase from human plasma and its activity on biotinyl peptides. Biochemistry 1985;24:2471-2476. (Pubitemid 15015752)
4. Bonjour JP. Biotin in man's nutrition and therapy - a review. Int J Vitam Nutr Res 1977;47:107-118. (Pubitemid 8124812)
5. Wolf B, Hsia YE, Sweetman L, et al. Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment. Pediatrics 1981;68:113-118. (Pubitemid 11061376)
6. Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. Clin Chim Acta 1983;131:273-281. (Pubitemid 13059045)
7. Wolf B, Grier RE, Secor McVoy JR, Heard GS. Biotinidase deficiency: a novel vitamin recycling defect. J Inherit Metab Dis 1985;8(suppl 1):53-58. (Pubitemid 15007716)
8. Wolf B. Clinical issues and frequent questions about biotinidase deficiency. Mol Genet Metab 2010;100:6-13.
9. Hymes J, Wolf B. Biotinidase and its roles in biotin metabolism. Clin Chim Acta 1996;255:1-11. (Pubitemid 26359517)
10. Wolf B, Miller JB, Hymes J, Secor McVoy J, Ishikawa Y, Shapira E. Immunological comparison of biotinidase in serum from normal and biotinidase-deficient individuals. Clin Chim Acta 1987;164:27-32. (Pubitemid 17068776)
11. Chauhan J, Dakshinamurti K. Purification and characterization of human serum biotinidase. J Biol Chem 1986;261:4268-4275. (Pubitemid 17198867)
12. Hart PS, Hymes J, Wolf B. Isoforms of human serum biotinidase. Clin Chim Acta 1991;197:257-264.
13. Oizumi J, Hayakawa K, Hosoya M. Comparative study on human milk and serum biotinidase. Biochimie 1989;71:1163-1169. (Pubitemid 20043465)
14. Knappe J, Bruemmer W, Biederbick K. [Purification and properties of biotinidase from swine kidney and lactobacillus casei]. Biochem Z 1963;338:599-613.
15. Heard GS, Secor McVoy JR, Wolf B. A screening method for biotinidase deficiency in newborns. Clin Chem 1984;30:125-127. (Pubitemid 14222577)
16. Hymes J, Fleischhauer K, Wolf B. Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency. Biochem Mol Med 1995;56:76-83.
17. Pindolia K, Jensen K, Wolf B. Three dimensional structure of human biotinidase: computer modeling and functional correlations. Mol Genet Metab 2007;92:13-22. (Pubitemid 47361883)
18. Hart PS, Hymes J, Wolf B. Biochemical and immunologic characterization of serum biotinidase in partial biotinidase deficiency. Pediatr Res 1992;31:261-265.
19. Hart PS, Barnstein BO, Secor McVoy JR, Matalon R, Wolf B. Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity. Biochem Med Metab Biol 1992;48:41-45.
20. Cole H, Weremowicz S, Morton CC, Wolf B. Localization of serum biotinidase (BTD) to human chromosome 3 in band p25. Genomics 1994;22:662-663. (Pubitemid 24274004)
21. Cole H. Cloning and characterization of the human biotinidase gene. Thesis, Medical College of Virginia/Virginia Commonwealth University: Richmond, VA, 1994.
22. Knight HC, Reynolds TR, Meyers GA, Pomponio RJ, Buck GA, Wolf B. Structure of the human biotinidase gene. Mamm Genome 1998;9: 327-330. (Pubitemid 28181036)
23. Cole H, Reynolds TR, Lockyer JM, et al. Human serum biotinidase. cDNA cloning, sequence, and characterization. J Biol Chem 1994;269: 6566-6570.
24. Wolf B, Grier RE, Allen RJ, et al. Phenotypic variation in biotinidase deficiency. J Pediatr 1983;103:233-237. (Pubitemid 13038844)
25. Wolf B, Heard GS, Weissbecker KA, McVoy JR, Grier RE, Leshner RT. Biotinidase deficiency: initial clinical features and rapid diagnosis. Ann Neurol 1985;18:614-617. (Pubitemid 16258099)
26. Wastell HJ, Bartlett K, Dale G, Shein A. Biotinidase deficiency: a survey of 10 cases. Arch Dis Child 1988;63:1244-1249.
27. Wolf B. The neurology of biotinidase deficiency. Mol Genet Metab 2011;104:27-34.
28. Salbert BA, Pellock JM, Wolf B. Characterization of seizures associated with biotinidase deficiency. Neurology 1993;43:1351-1355. (Pubitemid 23213808)
29. Chedrawi AK, Ali A, Al Hassnan ZN, Faiyaz-Ul-Haque M, Wolf B. Profound biotinidase deficiency in a child with predominantly spinal cord disease. J Child Neurol 2008;23:1043-1048.
30. Wolf B, Secor McVoy J. A sensitive radioassay for biotinidase activity: deficient activity in tissues of serum biotinidase-deficient individuals. Clin Chim Acta 1983;135:275-281. (Pubitemid 14209761)
31. Lott IT, Lottenberg S, Nyhan WL, Buchsbaum MJ. Cerebral metabolic change after treatment in biotinidase deficiency. J Inherit Metab Dis 1993;16: 399-407. (Pubitemid 23213671)
32. Grünewald S, Champion MP, Leonard JV, Schaper J, Morris AA. Biotinidase deficiency: a treatable leukoencephalopathy. Neuropediatrics 2004;35: 211-216. (Pubitemid 39215598)
33. Taitz LS, Leonard JV, Bartlett K. Long-term auditory and visual complications of biotinidase deficiency. Early Hum Dev 1985;11:325-331. (Pubitemid 15023043)
34. Salbert BA, Astruc J, Wolf B. Ophthalmologic findings in biotinidase deficiency. Ophthalmologica 1993;206:177-181. (Pubitemid 23173980)
35. Weber P, Scholl S, Baumgartner ER. Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. Dev Med Child Neurol 2004;46:481-484. (Pubitemid 38885847)
36. Wolf B, Spencer R, Gleason T. Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. J Pediatr 2002;140:242-246. (Pubitemid 34183667)
37. Burton BK, Roach ES, Wolf B, Weissbecker KA. Sudden death associated with biotinidase deficiency. Pediatrics 1987;79:482-483.
38. Ramaekers VT, Brab M, Rau G, Heimann G. Recovery from neurological deficits following biotin treatment in a biotinidase Km variant. Neuropediatrics 1993;24:98-102. (Pubitemid 23207163)
39. Suormala T, Ramaekers VT, Schweitzer S, et al. Biotinidase Km-variants: detection and detailed biochemical investigations. J Inherit Metab Dis 1995;18:689-700.
40. Tokatli A, Coskun T, Ozalp I. Biotinidase deficiency with neurological features resembling multiple sclerosis. J Inherit Metab Dis 1997;20:707-708.
41. Wolf B, Pomponio RJ, Norrgard KJ, et al. Delayed-onset profound biotinidase deficiency. J Pediatr 1998;132:362-365.
42. McVoy JR, Levy HL, Lawler M, et al. Partial biotinidase deficiency: clinical and biochemical features. J Pediatr 1990;116:78-83. (Pubitemid 20038266)
43. Suormala TM, Baumgartner ER, Wick H, Scheibenreiter S, Schweitzer S. Comparison of patients with complete and partial biotinidase deficiency: biochemical studies. J Inherit Metab Dis 1990;13:76-92. (Pubitemid 20141306)
44. Wolf B, Norrgard K, Pomponio RJ, et al. Profound biotinidase deficiency in two asymptomatic adults. Am J Med Genet 1997;73:5-9. (Pubitemid 27467518)
45. Baykal T, Gokcay G, Gokdemir Y, et al. Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases. J Inherit Metab Dis 2005;28:903-912. (Pubitemid 43168926)
46. Wolf B. Biotinidase deficiency: new directions and practical concerns. Curr Treat Options Neurol 2003;5:321-328.
47. Moslinger D, Stockler-Ipsiroglu S, Scheibenreiter S, et al. Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. Eur J Pediatr 2002;161:167-168.
48. Möslinger D, Mühl A, Suormala T, Baumgartner R, Stöckler-Ipsiroglu S. Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. Eur J Pediatr 2003;162(suppl 1):S46-S49. (Pubitemid 38064745)
49. Wolf B. Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype. Eur J Pediatr 2002;161:167-8; author reply 169.
50. Suormala T, Wick H, Bonjour JP, Baumgartner ER. Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample. Clin Chim Acta 1985;145:151-162. (Pubitemid 15153148)
51. Wolf B. Disorders of biotin metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic Basis of Inherited Disease. McGraw-Hill: New York, 1992:2083-2103.
52. Mock DM, Baswell DL, Baker H, Holman RT, Sweetman L. Biotin deficiency complicating parenteral alimentation: diagnosis, metabolic repercussions, and treatment. Ann NY Acad Sci 1985;447:314-334. (Pubitemid 15037943)
53. Swick HM, Kien CL. Biotin deficiency with neurologic and cutaneous manifestations but without organic aciduria. J Pediatr 1983;103:265-267. (Pubitemid 13038855)
54. Innes SM, Allardya DB. Possible biotin deficiency in adults receiving long-term total parenteral nutrition. Am J Clin Nutr 1983;37:185.
55. McClain CJ, Baker H, Onstad GR. Biotin deficiency in an adult during home parenteral nutrition. JAMA 1982;247:3116-3117. (Pubitemid 12114467)
56. Wastell H, Dale G, Bartlett K. A sensitive fluorimetric rate assay for biotinidase using a new derivative of biotin, biotinyl-6-aminoquinoline. Anal Biochem 1984;140:69-73. (Pubitemid 14093649)
57. Weiner DL, Grier RE, Wolf B. A bioassay for determining biotinidase activity and for discriminating biocytin from biotin using holocarboxylase synthetase-deficient cultured fibroblasts. J Inherit Metab Dis 1985;8(suppl 2):101-102. (Pubitemid 16227152)
58. Ebrahim H, Dakshinamurti K. A fluorometric assay for biotinidase. Anal Biochem 1986;154:282-286. (Pubitemid 16063371)
59. Cowan TM, Blitzer MG, Wolf B; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. Technical standards and guidelines for the diagnosis of biotinidase deficiency. Genet Med 2010;12:464-470.
60. Wolf B, Heard GS, Jefferson LG, Proud VK, Nance WE, Weissbecker KA. Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. N Engl J Med 1985;313:16-19. (Pubitemid 15068739)
61. Heard GS, Wolf B, Jefferson LG, et al. Neonatal screening for biotinidase deficiency: results of a 1-year pilot study. J Pediatr 1986;108:40-46. (Pubitemid 16126030)
62. Wolf B. Worldwide survey of neonatal screening for biotinidase deficiency. J Inherit Metab Dis 1991;14:923-927.
63. Pitkanen L, Tuuminen T. A quantitative fluorimetric micromethod used for the neonatal screening of biotinidase deficiency in Finland. Screening 2011;1:185-194.
64. PerkinElmer Life and Analytical Sciences. Neonatal biotinidase kit. 2011. Wallac Oy, Turku, Finland.
65. Pomponio RJ, Hymes J, Reynolds TR, et al. Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. Pediatr Res 1997;42:840-848. (Pubitemid 27509545)
66. Mühl A, Möslinger D, Item CB, Stöckler-Ipsiroglu S. Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. Eur J Hum Genet 2001;9:237-243. (Pubitemid 32366690)
67. Wolf B, Jensen K, Hüner G, et al. Seventeen novel mutations that cause profound biotinidase deficiency. Mol Genet Metab 2002;77:108-111. (Pubitemid 35178521)
68. Pindolia K, Jordan M, Wolf B. Analysis of mutations causing biotinidase deficiency. Hum Mutat 2010;31:983-991.
69. Swango KL, Wolf B. Conservation of biotindase in mammals and identification of the putative biotinidase gene in Drosophila melanogaster. Mol Genet Metab 2001;74:492-499. (Pubitemid 34084659)
70. Norrgard KJ, Pomponio RJ, Hymes J, Wolf B. Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children. Pediatr Res 1999;46:20-27. (Pubitemid 29293891)
71. Pomponio RJ, Reynolds TR, Cole H, Buck GA, Wolf B. Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency. Nat Genet 1995;11:96-98.
72. Pomponio RJ, Norrgard KJ, Hymes J, et al. Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children. Hum Genet 1997;99:506-512. (Pubitemid 27152101)
73. Norrgard KJ, Pomponio RJ, Swango KL, et al. Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. Biochem Mol Med 1997; 61:22-27. (Pubitemid 27291405)
74. Norrgard KJ, Pomponio RJ, Swango KL, et al. Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online. Hum Mutat 1998;11:410.
75. Swango KL, Demirkol M, Hüner G, et al. Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. Hum Genet 1998;102:571-575. (Pubitemid 28282586)
76. Hymes J, Stanley CM, Wolf B. Mutations in BTD causing biotinidase deficiency. Hum Mutat 2001;18:375-381. (Pubitemid 33055006)
77. Procter M, Mao R, Wolf B. Online Scientific ResourceARUP: Biotinidase deficiency and BTD. 2011. http://www.arup.utah.edu/database/BTD/BTD-welcome.php.
78. Weissbecker KA, Nance WE, Eaves LJ, Piussan C, Wolf B. Statistical approaches for the detection of heterozygotes for biotinidase deficiency. Am J Med Genet 1991;39:385-390.
79. Weissbecker KA, Nance WE, Eaves LJ, Piussan C, Wolf B. Statistical approaches for the detection of heterozygotes for biotinidase deficiency. Am J Med Genet 1991;39:385-390.
80. Sivri HS, Genç GA, Tokatli A, et al. Hearing loss in biotinidase deficiency: genotype-phenotype correlation. J Pediatr 2007;150:439-442. (Pubitemid 46437324)
81. Secor McVoy JR, Heard GS, Wolf B. Potential for prenatal diagnosis of biotinidase deficiency. Prenat Diagn 1984;4:317-318.
82. Chalmers RA, Mistry J, Docherty PW, Stratton D. First trimester prenatal exclusion of biotinidase deficiency. J Inherit Metab Dis 1994;17: 751-752.
83. Pomponio RJ, Hymes J, Pandya A, et al. Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses. Prenat Diagn 1998;18:117-122. (Pubitemid 28077403)
84. Neto EC, Schulte J, Rubim R, et al. Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations. Braz J Med Biol Res 2004;37:295-299. (Pubitemid 38444514)
85. Wolf B, Heard GS, Jefferson LG, et al. Neonatal screening for biotinidase deficiency: an update. J Inherited Metab Dis 1986;9(suppl 2):303-306. (Pubitemid 17189861)