DÄ internationalArchive20/2007Genetics of Mental Retardation

Review article

Genetics of Mental Retardation

Dtsch Arztebl 2007; 104(20): A-1400

Tzschach, A; Ropers, H

For technical reasons, the English full text will be published approximately two weeks after the German print edition has been published.

1. Leonard H, Wen X: The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 2002; 8: 117–34. MEDLINE
2. Chelly J, Khelfaoui M, Francis F et al.: Genetics and pathophysiology of mental retardation. Eur J Hum Genet 2006; 14: 701–13. MEDLINE
3. Chiurazzi P, Oostra BA: Genetics of mental retardation. Curr Opin Pediatr 2000; 12: 529–35. MEDLINE
4. Roizen NJ, Patterson D: Down's syndrome. Lancet 2003; 361: 1281–9. MEDLINE
5. Carpenter NJ: Molecular cytogenetics. Semin Pediatr Neurol 2001; 8: 135–46. MEDLINE
6. Horsthemke B, Buiting K: Imprinting defects on human chromosome 15. Cytogenet Genome Res 2006; 113: 292–9. MEDLINE
7. Ravnan JB, Tepperberg JH, Papenhausen P et al.: Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 2006; 43: 478–89. MEDLINE
8. Solinas-Toldo S, Lampel S, Stilgenbauer S et al.: Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes and Cancer 1997; 20: 399–407. MEDLINE
9. Pinkel D, Segraves R, Sudar D et al.: High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998; 20: 207–11. MEDLINE
10. de Vries BB, Pfundt R, Leisink M et al.: Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005; 77: 606–16. MEDLINE
11. Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 1991; 49: 995–1013. MEDLINE
12. Bugge M, Bruun-Petersen G, Brondum-Nielsen K et al.: Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man. J Med Genet 2000; 37: 858–65. MEDLINE
13. Kalscheuer VM, Tao J, Donnelly A et al.: Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 2003; 72: 1401–11. MEDLINE
14. Shoichet SA, Hoffmann K, Menzel C et al.: Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet 2003; 73: 1341–54. MEDLINE
15. Stankiewicz P, Lupski JR: Genome architecture, rearrangements and genomic disorders. Trends Genet 2002; 18: 74–82. MEDLINE
16. Penrose L: A clinical and genetic study of 1280 cases of mental defect. London: Medical Research Council, 1938.
17. Ropers HH: X-linked mental retardation: many genes for a complex disorder. Curr Opin Genet Dev 2006; 16: 260–9. MEDLINE
18. Vincent A, Heitz D, Petit C et al.: Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. Nature 1991; 349: 624–6. MEDLINE
19. Ropers HH, Hamel BC: X-linked mental retardation. Nat Rev Genet 2005; 6: 46–57. MEDLINE
20. Kahler SG, Fahey MC: Metabolic disorders and mental retardation. Am J Med Genet C Semin Med Genet 2003; 117: 31–41. MEDLINE
21. Kolehmainen J, Black GC, Saarinen A et al.: Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet 2003; 72: 1359–69. MEDLINE
22. Beales PL: Lifting the lid on Pandora's box: the Bardet-Biedl syndrome. Curr Opin Genet Dev 2005; 15: 315–23. MEDLINE
23. Garshasbi M, Motazacker MM, Kahrizi K et al.: SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genet 2006; 118: 708–15. MEDLINE
24. Najmabadi H, Motatzacker MM, Garshasbi M et al.: Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum Genet 2007; 121: 43-8. MEDLINE
25. Basel-Vanagaite L, Attia R, Yahav M et al.: The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. J Med Genet 2006; 43: 203–10. MEDLINE
e1. Van Naarden Braun K, Autry A, Boyle C: A population-based study of the recurrence of developmental disabilities-Metropolitan Atlanta Developmental Disabilities Surveillance Program, 1991–94. Paediatr Perinat Epidemiol 2005; 19: 69–79. MEDLINE
e2. McBride SM, Choi CH, Wang Y et al.: Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome. Neuron 2005; 45: 753–64. MEDLINE
e3. Nithianantharajah J, Hannan AJ: Enriched environments, experience-dependent plasticity and disorders of the nervous system. Nat Rev Neurosci 2006; 7: 697–709. MEDLINE
e4. Tao J, Van Esch H, Hagedorn-Greiwe M et al.: Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 2004; 75: 1149–54. MEDLINE