Genetic testing for paediatric neurological disorders

The Lancet Neurology

Volumn 7, Issue 12, 2008, Pages 1113-1126

  Valente, Enza Maria ^a,b   Ferraris, Alessandro ^a,c   Dallapiccola, Bruno ^a,c  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF MESSINA   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ABELSON HELPER INTEGRATION SITE 1 PROTEIN; ATM PROTEIN; CARBAMAZEPINE; CATHEPSIN D; CENTROSOMAL PROTEIN 290; CYSTATIN B; DYSTROPHIN; EARLY GROWTH RESPONSE FACTOR 2; FRAGILE X MENTAL RETARDATION PROTEIN; GLUCOSYLCERAMIDASE; LIPOPOLYSACCHARIDE BINDING PROTEIN; LIPOPOLYSACCHARIDE INDUCED TNF FACTOR PROTEIN; METHYL CPG BINDING PROTEIN 2; MITOCHONDRIAL DNA; MYELIN PROTEIN; MYELIN PROTEIN ZERO; NEUROFILAMENT PROTEIN; PARKIN; PERIPHERAL MYELIN PROTEIN 22; PHENYTOIN; PROTEIN; RETINITIS PIGMENTOSA GTASE REGULATOR INTERACTING PROTEIN 1 LIKE PROTEIN; SURVIVAL MOTOR NEURON PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; TUBERIN; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG; VALPROIC ACID; WILSON DISEASE PROTEIN;

AHI 1; ALLELE; ATAXIA TELANGIECTASIA; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD SAMPLING; CEP 290; CHEEK MUCOSA; CHROMOSOME DELETION; CLINICAL GENETICS; DATA BASE; DIAGNOSTIC TEST; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DNA EXTRACTION; DNA METHYLATION; DNA POLYMORPHISM; DUCHENNE MUSCULAR DYSTROPHY; ELECTROMYOGRAPHY; ENZYME ACTIVITY; ENZYME REPLACEMENT; ENZYME SUBSTRATE; EXON; FRAGILE X SYNDROME; FRIEDREICH ATAXIA; GAUCHER DISEASE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC COUNSELING; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENOME IMPRINTING; GENOTYPE; HAPPY PUPPET SYNDROME; HEMIZYGOTE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HETEROZYGOTE DETECTION; HISTOCHEMISTRY; HOMOZYGOTE; HUMAN; JOUBERT SYNDROME; LINKAGE ANALYSIS; LYMPHOCYTE CULTURE; MEDLINE; MISSENSE MUTATION; MOLECULAR GENETICS; MOSAICISM; MULTIFACTORIAL GENETIC DISORDER; MULTIFACTORIAL INHERITANCE; MUSCLE BIOPSY; MYOCLONUS EPILEPSY; NEUROFIBROMATOSIS; NEUROLOGIC DISEASE; NEURONAL CEROID LIPOFUSCINOSIS; NPHP 1; PENETRANCE; PHENOTYPE; POINT MUTATION; PRADER WILLI SYNDROME; PRIORITY JOURNAL; PROGNOSIS; PROTEIN SYNTHESIS; RETT SYNDROME; REVIEW; RNA EXTRACTION; RPGRIP 1L; SIDE EFFECT; SPINAL MUSCULAR ATROPHY; TUBEROUS SCLEROSIS; WILSON DISEASE; X CHROMOSOME LINKAGE;

CHILD; DIAGNOSIS, DIFFERENTIAL; EARLY DIAGNOSIS; GENETIC COUNSELING; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; NERVOUS SYSTEM DISEASES; PREDICTIVE VALUE OF TESTS;

EID: 55649087106     PISSN: 14744422     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1474-4422(08)70257-6     Document Type: Review

References (90)

1. Borry P., Nys H., Goffin T., and Dierickx K. Genetic testing and counselling. European Guidance. European ethical-legal papers (2007), EuroGentest, N°3. Leuven. http://www.eurogentest.org/web/files/public/unit4/EELP_3_voor_site.pdf (accessed October 27, 2008).
2. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. ASHG/ACMG report. Points to consider: ethical, legal and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet 57 (1995) 1233-1241
3. McNally E., Cambon-Thomsen A., and the Independent Expert Group. Research and development of genetic tests. Report on the ethical, legal and social aspects of genetic testing: research, development and clinical applications (2004), Office for Official Publications of the European Communities, Luxembourg 51-53
4. Harper P.S. Genetics and society. In: Harper P.S. (Ed). Practical genetic counselling, 6th edn (2004), Arnold, London 369-376
5. Sequeiros J., and Guimarães B. Definitions of genetic testing, 3rd draft. EuroGentest (2005). http://www.eurogentest.org/web/info/public/unit3/DefinitionsGeneticTesti ng-3rdDraf18Jan07.xhtml (accessed October 27, 2008).
6. Harper P.S. Glossary. In: Harper P.S. (Ed). Practical genetic counselling. 6th edn. (2004), Arnold, London 381-385
7. Wang C.H., Finkel R.S., Bertini E.S., et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 22 (2007) 1027-1049
8. Prior T.W., and Bridgeman S.J. Experience and strategy for the molecular testing of Duchenne muscular dystrophy. J Mol Diagn 7 (2005) 317-326
9. Winship I.M., and Dudding T.E. Lessons from the skin-cutaneous features of familial cancer. Lancet Oncol 9 (2008) 462-472
10. Viskochil D. Neurofibromatosis type 1. In: Cassidy S.B., and Allanson J.E. (Eds). Management of genetic syndromes. 2nd edn. (2005), John Wiley & Sons, Hoboken, New Jersey 369-384
11. Novak C.B. The phakomatoses: dermatologic clues to neurologic anomalies. Semin Pediatr Neurol 14 (2007) 140-149
12. Tassin J., Durr A., Bonnet A.M., et al. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?. Brain 123 (2000) 1112-1121
13. Leutenegger A.L., Salih M.A., Ibanez P., et al. Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. Arch Neurol 63 (2006) 1257-1261
14. Beck M. New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy. Hum Genet 121 (2007) 1-2
15. Kalviainen R., Khyuppenen J., Koskenkorva P., Eriksson K., Vanninen R., and Mervaala E. Clinical picture of EPM1-Unverricht-Lundborg disease. Epilepsia 49 (2008) 549-556
16. Eldridge R., Iivanainen M., Stern R., Koerber T., and Wilder B.J. 'Baltic' myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin. Lancet 2 (1983) 838-842
17. van Ommen G.J., van D.J., and Aartsma-Rus A. The therapeutic potential of antisense-mediated exon skipping. Curr Opin Mol Ther 10 (2008) 140-149
18. Valente E.M., Brancati F., and Dallapiccola B. Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet 51 (2008) 1-23
19. Castori M., Valente E.M., Donati M.A., et al. NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet 42 (2005) e9
20. Depienne C., Stevanin G., Brice A., and Durr A. Hereditary spastic paraplegias: an update. Curr Opin Neurol 20 (2007) 674-680
21. European Society of Human Genetics. Genetic testing in asymptomatic minors. Proposed recommendations of the European Society of Human Genetics. http://www.eshg.org/documents/TestingInMinorsRecommendations.pdf (accessed September 10, 2008).
22. Borry P., Evers-Kiebooms G., Cornel M.C., Clarke A., Dierickx K., and on behalf of the Public and Professional Policy Committee (PPPC) of the European Society of Human Genetics (ESHG). Genetic testing in asymptomatic minors. http://www.eshg.org/documents/TestingInMinorsBackground.pdf (accessed September 10, 2008).
23. Borry P., Nys H., and Dierickx K. Carrier testing in minors: conflicting views. Nat Rev Genet 8 (2007) 828
24. Cruz J.B., Fernandes L.P., Clara S.A., et al. Molecular analysis of the Von Hippel-Lindau (VHL) gene in a family with non-syndromic pheochromocytoma: the importance of genetic testing. Arq Bras Endocrinol Metabol 51 (2007) 1463-1467
25. American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol 21 (2003) 2397-2406
26. Waisbren S.E. expanded newborn screening: information and resources for the family physician. Am Fam Physician 77 (2008) 987-994
27. Rantanen E., Hietala M., Kristoffersson U., et al. What is ideal genetic counselling? A survey of current international guidelines. Eur J Hum Genet 16 (2008) 445-452
28. Organisation for economic co-operation and development. Principles and best practices for quality assurance of molecular genetic testing. OECD guidelines for quality assurance in molecular genetic testing (2007), OECD Publishing 11-19
29. European Society of Human Genetics. Recommendations for genetic counselling related to genetic testing. European Society of Human Genetics, 2008. http://www.eshg.org/recommendationsgencouns.htm (accessed September 9, 2008).
30. Wisniewski K.E. Neuronal ceroid lipofuscinoses. In: GeneReviews, 2006. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ncl (accessed 27 October 2008).
31. Dallapiccola B., Torrente I., Morena A., Dagna-Bricarelli F., and Mingarelli R. Genetic testing in Italy, year 2004. Eur J Hum Genet 14 (2006) 911-916
32. Prior T.W. Spinal muscular atrophy diagnostics. J Child Neurol 22 (2007) 952-956
33. Campuzano V., Montermini L., Molto M.D., et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271 (1996) 1423-1427
34. Durr A., Cossee M., Agid Y., et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 335 (1996) 1169-1175
35. Ala A., Walker A.P., Ashkan K., Dooley J.S., and Schilsky M.L. Wilson's disease. Lancet 369 (2007) 397-408
36. Gojova L., Jansova E., Kulm M., Pouchla S., and Kozak L. Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease. Clin Genet 73 (2008) 441-452
37. Mavrou A., Tsangaris G.T., Roma E., and Kolialexi A. The ATM gene and ataxia telangiectasia. Anticancer Res 28 (2008) 401-405
38. Francke U. Mechanisms of disease: neurogenetics of MeCP2 deficiency. Nat Clin Pract Neurol 2 (2006) 212-221
39. Nave K.A., Sereda M.W., and Ehrenreich H. Mechanisms of disease: inherited demyelinating neuropathies-from basic to clinical research. Nat Clin Pract Neurol 3 (2007) 453-464
40. Williams R.E., Aberg L., Autti T., Goebel H.H., Kohlschutter A., and Lonnqvist T. Diagnosis of the neuronal ceroid lipofuscinoses: an update. Biochim Biophys Acta 1762 (2006) 865-872
41. Horsthemke B., and Wagstaff J. Mechanisms of imprinting of the Prader-Willi/Angelman region. Am J Med Genet A 146A (2008) 2041-2052
42. Ayme S. Bridging the gap between molecular genetics and metabolic medicine: access to genetic information. Eur J Pediatr 159 (2000) S183-S185
43. Uhlmann W.R., and Guttmacher A.E. Key internet genetic resources for the clinician. JAMA 299 (2008) 1356-1358
44. Medicare, Medicaid, and CLIA programs; laboratory requirements relating to quality systems and certain personnel qualifications. Final rule. Fed Regist 68 (2003) 3639-3714
45. Stultiens L., Goffin T., Borry P., Dierickx K., and Nys H. Minors and informed consent: a comparative approach. Eur J Health Law 14 (2007) 21-46
46. Rantanen E., Hietala M., Kristoffersson U., et al. Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives. Eur J Hum Genet 16 (2008) 1208-1216
47. Isken O., and Maquat L.E. Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function. Genes Dev 21 (2007) 1833-1856
48. Van Der Knaap M.S., Pronk J.C., and Scheper G.C. Vanishing white matter disease. Lancet Neurol 5 (2006) 413-423
49. Li W., Wang X., Van Der Knaap M.S., and Proud C.G. Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways. Mol Cell Biol 24 (2004) 3295-3306
50. Moser H.W., Mahmood A., and Raymond G.V. X-linked adrenoleukodystrophy. Nat Clin Pract Neurol 3 (2007) 140-151
51. Opal P., Tintner R., Jankovic J., et al. Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm. Mov Disord 17 (2002) 339-345
52. Edwards M., Wood N., and Bhatia K. Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature. Mov Disord 18 (2003) 706-711
53. Gambarin M., Valente E.M., Liberini P., et al. Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia. Mov Disord 21 (2006) 1782-1784
54. Kostic V.S., Svetel M., Kabakci K., et al. Intrafamilial phenotypic and genetic heterogeneity of dystonia. J Neurol Sci 250 (2006) 92-96
55. Risch N.J., Bressman S.B., Senthil G., and Ozelius L.J. Intragenic CIS and TRANS modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet 80 (2007) 1188-1193
56. Jozwiak J., Jozwiak S., and Wlodarski P. Possible mechanisms of disease development in tuberous sclerosis. Lancet Oncol 9 (2008) 73-79
57. Grabowski M., Zimprich A., Lorenz-Depiereux B., et al. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Eur J Hum Genet 11 (2003) 138-144
58. Muller B., Hedrich K., Kock N., et al. Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am J Hum Genet 71 (2002) 1303-1311
59. Gatchel J.R., and Zoghbi H.Y. Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet 6 (2005) 743-755
60. Korneluk R.G., and Narang M.A. Anticipating anticipation. Nat Genet 15 (1997) 119-120
61. Ribai P., Nguyen K., Hahn-Barma V., et al. Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. Arch Neurol 64 (2007) 813-819
62. Redman J.B., Fenwick R.G., Fu Y.H., Pizzuti A., and Caskey C.T. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. JAMA 269 (1993) 1960-2005
63. Ohya K., Tachi N., Sato T., Kon S., Kikuchi K., and Chiba S. Detection of the CTG repeat expansion in congenital myotonic dystrophy. Jpn J Hum Genet 42 (1997) 169-180
64. Caskey C.T., Pizzuti A., Fu Y.H., Fenwick R.G., and Nelson D.L. Triplet repeat mutations in human disease. Science 256 (1992) 784-789
65. Van Esch H. The Fragile X premutation: new insights and clinical consequences. Eur J Med Genet 49 (2006) 1-8
66. Hagerman P.J., and Hagerman R.J. The fragile-X premutation: a maturing perspective. Am J Hum Genet 74 (2004) 805-816
67. Fackenthal D.L., Chen P.X., and Das S. Denaturing high-performance liquid chromatography for mutation detection and genotyping. Methods Mol Biol 311 (2005) 73-96
68. Hedrich K., Eskelson C., Wilmot B., et al. Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord 19 (2004) 1146-1157
69. Badano J.L., and Katsanis N. Beyond Mendel: an evolving view of human genetic disease transmission. Nat Rev Genet 3 (2002) 779-789
70. Katsanis N., Ansley S.J., Badano J.L., et al. Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder. Science 293 (2003) 2256-2259
71. Badano J.L., Leitch C.C., Ansley S.J., et al. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature 439 (2006) 326-330
72. Depienne C., Fedirko E., Forlani S., et al. Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet 44 (2007) 281-284
73. Grunewald A., Djarmati A., Lohmann-Hedrich K., et al. Myoclonus-dystonia: significance of large SGCE deletions. Hum Mutat 29 (2008) 331-332
74. Harper P.S. Genetic counselling in mendelian disorders. In: Harper P.S. (Ed). Practical genetic counselling. 6th edn. (2004), Arnold, London 21-50
75. Morava E., van den H.L., Hol F., et al. Mitochondrial disease criteria: diagnostic applications in children. Neurology 67 (2006) 1823-1826
76. Zeviani M., and Carelli V. Mitochondrial disorders. Curr Opin Neurol 20 (2007) 564-571
77. Moslemi A.R., and Darin N. Molecular genetic and clinical aspects of mitochondrial disorders in childhood. Mitochondrion 7 (2007) 241-252
78. Thorburn D.R., and Dahl H.H. Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. Am J Med Genet 106 (2001) 102-114
79. South S.T., Chen Z., and Brothman A.R. Genomic medicine in prenatal diagnosis. Clin Obstet Gynecol 51 (2008) 62-73
80. Bredenoord A.L., Pennings G., Smeets H.J., and de W.G. Dealing with uncertainties: ethics of prenatal diagnosis and preimplantation genetic diagnosis to prevent mitochondrial disorders. Hum Reprod Update 14 (2008) 83-94
81. Practice Committee of the Society for Assisted Reproductive Technology, Practice Committee of the American Society for Reproductive Medicine. Preimplantation genetic testing: a Practice Committee opinion. Fertil Steril 88 (2007) 1497-1504
82. Renwick P., and Ogilvie C.M. Preimplantation genetic diagnosis for monogenic diseases: overview and emerging issues. Expert Rev Mol Diagn 7 (2007) 33-43
83. McNally E., Cambon-Thomsen A., and the Independent Expert Group. Genetic testing: state of the art. Report on the ethical, legal and social aspects of genetic testing: research, development and clinical applications (2004), Office for Official Publications of the European Communities, Luxembourg 15-21
84. Sellner L.N., and Taylor G.R. MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 23 (2004) 413-419
85. Slater H., Bruno D., Ren H., et al. Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method. Hum Mutat 24 (2004) 164-171
86. Bunyan D.J., Skinner A.C., Ashton E.J., et al. Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene. Mol Biotechnol 35 (2007) 135-140
87. Kozlowski P., Roberts P., Dabora S., et al. Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet 121 (2007) 389-400
88. Zeng F., Ren Z.R., Huang S.Z., et al. Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. Hum Mutat 29 (2008) 190-207
89. Das S., Bale S.J., and Ledbetter D.H. Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory. Genet Med 10 (2008) 332-336
90. American Society of Human Genetics. ASHG statement on direct-to-consumer genetic testing in the United States. Am J Hum Genet 81 (2007) 635-637