Updates in the Genetic Evaluation of the Child with Global Developmental Delay or Intellectual Disability

Seminars in Pediatric Neurology

Volumn 19, Issue 4, 2012, Pages 173-180

  Flore, Leigh Anne ^a   Milunsky, Jeff M ^a  

^a Center for Human Genetic Research   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ARTICLE; AUTISM; CHROMOSOME ANALYSIS; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DIAGNOSTIC TEST; DNA DETERMINATION; EXOME; FACE DYSMORPHIA; FRAGILE X SYNDROME; GENE; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENE TECHNOLOGY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SCREENING; GLOBAL DEVELOPMENTAL DELAY; HAPPY PUPPET SYNDROME; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPE; MACROCEPHALY; MECP2 GENE; MICROARRAY ANALYSIS; MICROCEPHALY; NEUROLOGIC EXAMINATION; OUTCOME ASSESSMENT; PHENOTYPE; PTEN GENE; RETT SYNDROME; SEIZURE;

CHILD; DEVELOPMENTAL DISABILITIES; GENETIC TESTING; HUMANS; INTELLECTUAL DISABILITY; NEUROLOGY;

EID: 84870902009     PISSN: 10719091     EISSN: 15580776     Source Type: Journal    
DOI: 10.1016/j.spen.2012.09.004     Document Type: Article

References (47)

1. Peterson M.C., Kube D.A., Palmer F.B. Classification of developmental delays. Semin Pediatr Neurol 1998, 5:2-14.
2. Michelson D.J., Shevell M.I., Sherr E.H., et al. Evidence report: Genetic and metabolic testing on children with global developmental delay. Report of the Quality Standards Subcommittee of the American Academy and the Practice Committee of the Child Neurology Society. Neurology 2011, 77:1629-1635.
3. Accardo P., Capute A. Intellectual disability. Principles and Practice of Pediatrics 1995, 73-680. Lippincott, Philadelphia, PA. F. Oski, C.D. Deangelis (Eds.).
4. Luckasson R., Borthwick-Duffy S., Buntinx W.H.E., et al. Intellectual Disability: Definition, Classification, and Systems of Support 1992, American Association on Intellectual Disability, Washington, DC. ed 10.
5. Aradhya S., Manning M.A., Splendore A., et al. Whole-genome array-CGH identified novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features. Am J Med Genet A 2007, 143A:1431-1441.
6. Friedman J.M., Baross A., Delaney A.D., et al. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 2006, 79:500-513.
7. Shaffer L.G., Kashork C.D., Saleki R. Targeted genomic microarray analysis for identification of chromosome abnormalities in 150 consecutive clinical cases. J Pediatr 2006, 149:98-102.
8. Miller D.T., Adam M.P., Aradhya S., et al. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010, 86:749-764.
9. Wain K.E., Thorland E.C. Clinical utility of chromosomal microarray testing. Mayo Med Lab Commun 2011, 36(2):1-10.
10. McGillivray G., Rosenfeld J.A., McKinlay Gardner R.J., et al. Genetic counselling and ethical issues with chromosome microarray analysis in a prenatal setting. Prenat Diagn 2012, 32:389-395.
11. Schaaf P.S., Wiszniewska J., Beaudet A.L. Copy number and SNP arrays in clinical diagnostics. Ann Rev Genomics Hum Genet 2011, 12:25-51.
12. Shaw-Smith C., Redon R., Rickman L. Microarray based comparative genomic hybridisation (array CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 2004, 41:241-248.
13. Brunetti-Pierri N., Berg J.S., Scaglia F., et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 2008, 40:1466-1471.
14. Mefford H.C., Sharp A.J., Baker C., et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008, 359:1685-1699.
15. Battaglia A., Hoyme H.E., Dallapiccola B., et al. Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 2008, 121:404-410.
16. Gajecka M., Mackay K.L., Shaffer L.G. Monosomy 1p36 deletion syndrome. Am J Med Genet C Semin Med Genet 2007, 145:346-356.
17. Shapira S.K., McCaskill C., Northrup H., et al. Chromosome 1p36 deletions: The clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 1997, 61:642-650.
18. van Bon B.W., Mefford H.C., Menten B., et al. Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet 2009, 46:511-523.
19. Masurel-Paulet A., Andrieux J., Callier P., et al. Delineation of 15q13.3 microdeletions. Clin Genet 2010, 78:149-161.
20. Ben-Shachar S., Lanpher B., German J.R., et al. Microdeletion 15q13.3: A locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet 2009, 46:382-388.
21. Mefford H.C., Rosenfeld J.A., Shur N., et al. Further clinical and molecular delineation of the 15q24 microdeletion syndrome. J Med Genet 2012, 49:110-118.
22. Ng I.S.L., Chin W.H., Lim E.C.P., et al. An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature. Twin Res Hum Genet 2011, 14:333-339.
23. Weiss L.A., Shen Y., Korn J.M., et al. Autism Consortium; association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008, 358:667-675.
24. Shinawi M., Liu P., Kang S.H., et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 2010, 47(5):332-341.
25. Koolen D.A., Sharp A.J., Hurst J.A., et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet 2008, 45:710-720.
26. Shaw-Smith C., Pittman A.M., Willatt L., et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet 2006, 38:1032-1037.
27. Ensenauer R.E., Adewyinka A., Flynn H.C., et al. Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 2003, 73:1027-1040.
28. Girirajan S., Rosenfeld J.A., Cooper G.M., et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 2010, 42:203-209.
29. Hook E.B. Exclusion of chromosomal mosaicism. Am J Hum Genet 1977, 29:94-97.
30. Conlin L.K., Thiel B.D., Bonnemann C.G., et al. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism analysis. Hum Mol Genet 2010, 19:1263-1275.
31. Hoffbuhr K., Devaney J.M., LaFleur B., et al. MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 2001, 56:1486-1495.
32. Van Esch H., Bauters M., Ignatius J., et al. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 2005, 77:442-453.
33. Williams C.A., Driscoll D.J., Dagli A.I. Clinical and genetic aspects of Angelman syndrome. Genet Med 2010, 12:385-395.
34. Dagli A.I., Williams C.A. Angelman Syndrome. [Updated 2011 Jun 16]. GeneReviews™ 1993, University of Washington, Seattle, Seattle, WA, Available at: http://www.ncbi.nlm.nih.gov/books/NBK1144/. Accessed June 18, 2012. R.A. Pagon, T.D. Bird, C.R. Dolan (Eds.).
35. Christianson A.L., Stevenson R.E., van der Meyden C.H., et al. X-linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27. J Med Genet 1999, 36:759-766.
36. Schroer R.J., Holden K.R., Tarpey P.S., et al. Natural history of Christianson syndrome. Am J Med Genet A 2010, 152A:2775-2783.
37. Bahi-Buisson N., Nectoux J., Rosas-Vargas H., et al. Key clinical features to identify girls with CDKL5 mutations. Brain 2008, 131:2647-2661.
38. Takano K., Lyons M., Moyes C., et al. Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. Clin Genet 2010, 78:282-288.
39. Cassidy S.B., Schwartz S. Prader-Willi Syndrome. [Updated 2009 Sep 3]. GeneReviews™ 1993, University of Washington, Seattle, Seattle, WA, Available at: http://www.ncbi.nlm.nih.gov/books/NBK1330/, Accessed June 12, 2012. R.A. Pagon, T.D. Bird, C.R. Dolan (Eds.).
40. Butler M.G., Dasouki M.J., Zhou X.P., et al. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet 2005, 42:318-321.
41. Varga E.A., Pastore M., Prior T., et al. The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay and macrocephaly. Genet Med 2009, 11:111-117.
42. Blumenthal G.M., Dennis P.A. PTEN hamartoma tumor syndromes. Eur J Human Genet 2008, 16:1289-1300.
43. Stevenson R.E., Schwartz C.E. Clinical and molecular contributions to the understanding of X-linked mental retardation. Cytogenet Genome Res 2002, 99(1-4):265-275.
44. De Brouwer A.P., Yntema H.G., Kleefstra T. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat 2007, 28:207-208.
45. Orstavik K.H. X chromosome inactivation in clinical practice. Hum Genet 2009, 126:363-373.
46. Vissers L.E., de Light J., Gilissen C., et al. A de novo paradigm for mental retardation. Nat Genet 2010, 42:1109-1112.
47. Kearney H.M., South S.T., Wolff D.J., et al. American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities. Genet Med 2011, 13:676-679.