Single gene disorders come into focus-again;Los trastornos por un gen único vuelven a estar en el foco de la investigación

Dialogues in Clinical Neuroscience

Volumn 12, Issue 1, 2010, Pages 91-98

  Ropers, Hans Hilger ^a  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

Genome research; Health care; Mental retardation; Nextgeneration sequencing; Single gene disorder

Indexed keywords

ARTICLE; AUTISM; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME REARRANGEMENT; COPY NUMBER VARIATION; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC LINKAGE; GENETIC SCREENING; GENOME; HEREDITY; HETEROZYGOTE; HUMAN; INHERITANCE; MEDICAL GENETICS; MENTAL DEFICIENCY; MOLECULAR MECHANICS; NONHUMAN; PATHOGENESIS; PHENOTYPE; SCHIZOPHRENIA; SEQUENCE ANALYSIS; SEX DIFFERENCE; SINGLE GENE DISORDER; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME;

EID: 78649476265     PISSN: 12948322     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (44)

1. Maher B. Personal genomes: the case of the missing heritability. Nature. 2008;456:18-21.
2. Ropers HH. New perspectives for the elucidation of genetic disorders. Am J Hum Genet. 2007;81:199-207.
3. Check Hayden E. Genomics shifts focus to rare diseases. Nature. 2009;461:458.
4. Penrose LS, ed. A Clinical and Genetic Study of 1280 Cases of Mental Defect. London, UK: HM Stationery Office; 1938.
5. Renpenning H, Gerrard JW, Zaleski WA, Tabata T. Familial sex-linked mental retardation. Can Med Assoc J. 1962;87:954-956.
6. Lehrke R. Theory of X-linkage of major intellectual traits. Am J Ment Defic. 1972;76:611-619.
7. Lehrke RG. X-linked mental retardation and verbal disability. Birth Defects Orig Artic Ser. 1974;10:1-100.
8. Ropers HH, Hamel BC. X-linked mental retardation. Nat Rev Genet. 2005;6:46-57.
9. de Brouwer AP, Yntema HG, Kleefstra T, et al. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat. 2007;28:207-208.
10. Tarpey PS, Smith R, Pleasance E, et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet. 2009;41:535-543.
11. Zechner U, Wilda M, Kehrer-Sawatzki H, Vogel W, Fundele R, Hameister H. A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution? Trends Genet. 2001;17:697-701.
12. Morrow EM, Yoo SY, Flavell SW, et al. Identifying autism loci and genes by tracing recent shared ancestry. Science. 2008;321:218-223.
13. Ingason A, Rujescu D, Cichon S, et al. Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol Psychiatry. 2009 Sep 29 [Epub ahead of print].
14. Passarge E. Wither polygenic inheritance: mapping Hirschsprung disease. Nat Genet. 1993;4:325-326.
15. Chen W, Kalscheuer V, Tzschach A, et al. Mapping translocation breakpoints by next-generation sequencing. Genome Res. 2008;18:1143-1149.
16. Chen W, Ullmann R, Langnick C, et al. Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. Eur J Hum Genet. In press.
17. Monaco AP, Bertelson CJ, Middlesworth W, et al. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature. 1985;316:842-845.
18. Koolen DA, Pfundt R, de Leeuw N, et al. Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat. 2009;30:283-292.
19. Lupski JR. Genomic disorders ten years on. Genome Med. 2009;1:42.
20. Vissers LE, van Ravenswaaij CM, Admiraal R, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. 2004;36:955-957.
21. Conrad DF, Pinto D, Redon R, et al. Origins and functional impact of copy number variation in the human genome. Nature. 2009 Oct 7 [Epub ahead of print].
22. Ullmann R, Turner G, Kirchhoff M, et al. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat. 2007;28:674-682.
23. Mefford HC, Cooper GM, Zerr T, et al. A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res. 2009;19:1579-1585.
24. Bittles AH. A community genetics perspective on consanguineous marriage. Community Genet. 2008;11:324-330.
25. Bond J, Roberts E, Springell K, et al. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet. 2005;37:353-355.
26. Cox J, Jackson AP, Bond J, Woods CG. What primary microcephaly can tell us about brain growth. Trends Mol Med. 2006;12:358-366.
27. Kumar A, Girimaji SC, Duvvari MR, Blanton SH. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. Am J Hum Genet. 2009;84:286-290.
28. Garshasbi M, Hadavi V, Habibi H, et al. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet. 2008;82:1158-1164.
29. 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;118:708-715.
30. Moheb LA, Tzschach A, Garshasbi M, et al. Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. Eur J Hum Genet. 2008;16:270-273.
31. Motazacker MM, Rost BR, Hucho T, et al. A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet. 2007;81:792-798.
32. Rabionet R, Zelante L, Lopez-Bigas N, et al. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum Genet. 2000;106:40-44.
33. Laumonnier F, Cuthbert PC, Grant SG. The role of neuronal complexes in human X-linked brain diseases. Am J Hum Genet. 2007;80:205-220.
34. Shoubridge C, Tarpey P, Abidi F, et al. Mutations in IQSEC2, a guanine nucleotide exchange factor for ARF6, cause non-syndromic mental retardation. Paper presented at: 14th International Workshop on Fragile X and X-linked Mental Retardation. Praia do Forte, Brasil, September 15-19, 2009.
35. Raymond FL, Tarpey P, Whibley A, et al, on behalf of the iGOLD study. A systematic, large-scale resequencing and copy number variant screen of the X Chromosome coding exons in mental retardation. Paper presented at: 14th International Workshop on Fragile X and X-linked Mental Retardation. Praia do Forte, Brasil, September 15-19, 2009.
36. Ng PC, Levy S, Huang J, et al. Genetic variation in an individual human exome. PLoS Genet. 2008;4:e1000160.
37. Wheeler DA, Srinivasan M, Egholm M, et al. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008;452:872-876.
38. Tucker T, Marra M, Friedman JM. Massively parallel sequencing: the next big thing in genetic medicine. Am J Hum Genet. 2009;85:142-154.
39. Bentley DR, Balasubramanian S, Swerdlow HP, et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature. 2008;456:53-59.
40. Kaback M, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K. Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. JAMA. 1993;270:2307-2315.
41. Terwilliger JD, Hiekkalinna T. An utter refutation of the "fundamental theorem of the HapMap". Eur J Hum Genet. 2006;14:426-437.
42. Klopocki E, Schulze H, Strauss G, et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007;80:232-240.
43. Mandel JL, Chelly J. Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. Eur J Hum Genet. 2004;12:689-693.
44. Ropers HH. X-linked mental retardation: many genes for a complex disorder. Curr Opin Genet Dev. 2006;16:260-269.