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Review

Strategies for present and future mental retardation diagnosis

Dorien Lugtenberga Radboud University, Department of Human Genetics, Nijmegen Medical Centre, Nijmegen, The Netherlands. [email protected]
,
Ben JC Hamelb Radboud University, Department of Human Genetics, Nijmegen Medical Centre, Nijmegen, The Netherlands. [email protected]
,
Hans van Bokhovenc Radboud University, Department of Human Genetics, Nijmegen Medical Centre, Nijmegen, The Netherlands. [email protected]
&
Arjan PM de BrouwerCorrespondence[email protected]
Pages 775-785 | Published online: 03 Nov 2006

Bibliography

  • Leonard H , WenX: The epidemiology of mental retardation: challenges and opportunities in the new millennium.Ment. Retard. Dev. Disabil. Res. Rev.8, 117–134 (2002).
  • Roeleveld N , ZielhuisGA, GabreelsF: The prevalence of mental retardation: a critical review of recent literature.Dev. Med. Child Neurol.39, 125–132 (1997).
  • Rauch A , HoyerJ, GuthSet al.: Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.Am. J. Med. Genet. A.140, 2063–2074 (2006).
  • Yeargin-Allsopp M , MurphyCC, Cordero JF, Decoufle P, Hollowell JG: Reported biomedical causes and associated medical conditions for mental retardation among 10-year-old children, metropolitan Atlanta, 1985 to 1987. Dev. Med. Child Neurol.39, 142–149 (1997).
  • Basel-Vanagaite L , AttiaR, YahavMet 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.43, 203–210 (2006).
  • Higgins JJ , PucilowskaJ, LombardiRQ, RooneyJP: A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation.Neurology63, 1927–1931 (2004).
  • Molinari F , RioM, MeskenaiteVet al.: Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation.Science298, 1779–1781 (2002).
  • Verkerk AJ , PierettiM, SutcliffeJSet al.: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.Cell65, 905–914 (1991).
  • Crawford DC , AcunaJM, ShermanSL: FMR1 and the fragile X syndrome: human genome epidemiology review.Genet. Med.3, 359–371 (2001).
  • de Vries BBA , van den Ouweland AMW, Mohkamsing Set al.: Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Am. J. Hum. Genet.61, 660–667 (1997).
  • Turner G , WebbT, WakeS, RobinsonH: Prevalence of fragile X syndrome.Am. J. Med. Genet.64, 196–197 (1996).
  • Chelly J , KhelfaouiM, FrancisF, CherifB, BienvenuT: Genetics and pathophysiology of mental retardation.Eur. J. Hum. Genet.14, 701–713 (2006).
  • de Vries BB , PfundtR, LeisinkMet al.: Diagnostic genome profiling in mental retardation.Am. J. Hum. Genet.77, 606–616 (2005).
  • Lugtenberg D , de Brouwer AP, Kleefstra Tet al.: Chromosomal copy number changes in patients with non-syndromic X-linked mental retardation detected by array CGH. J. Med. Genet.43, 362–370 (2006).
  • Menten B , MaasN, ThienpontBet al.: Emerging patterns of cryptic chromosomal imbalances in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of the literature.J. Med. Genet.43, 625–633 (2006).
  • Rosenberg C , KnijnenburgJ, BakkerEet al.: Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J. Med. Genet.43, 180–186 (2006).
  • Schoumans J , RuivenkampC, HolmbergEet al.: Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J. Med. Genet.42, 699–705 (2005).
  • Shaw-Smith C , RedonR, RickmanLet al.: 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.41, 241–248 (2004).
  • Vissers LE , de Vries BB, Osoegawa Ket al.: Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am. J. Hum. Genet.73, 1261–1270 (2003).
  • Trask BJ : Human cytogenetics: 46 chromosomes, 46 years and counting.Nat. Rev. Genet.3, 769–778 (2002).
  • Ishkanian AS , MalloffCA, WatsonSKet al.: A tiling resolution DNA microarray with complete coverage of the human genome. Nat. Genet.36, 299–303 (2004).
  • Iafrate AJ , FeukL, RiveraMNet al.: Detection of large-scale variation in the human genome.Nat. Genet.36, 949–951 (2004).
  • Sebat J , LakshmiB, TrogeJet al.: Large-scale copy number polymorphism in the human genome.Science305, 525–528 (2004).
  • Armour JA , SismaniC, PatsalisPC, Cross G: Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Res.28, 605–609 (2000).
  • Patsalis PC , KousoulidouL, SismaniC, MannikK, KurgA: MAPH: from gels to microarrays.Eur. J. Med. Genet.48, 241–249 (2005).
  • Schouten JP , McElgunnCJ, WaaijerRet al.: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res.30, e57 (2002).
  • White SJ , VinkGR, KriekMet al.: Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses.Hum. Mutat.24, 86–92 (2004).
  • Weksberg R , HughesS, MoldovanLet al.: A method for accurate detection of genomic microdeletions using real-time quantitative PCR.BMC. Genomics6, 180 (2005).
  • Koolen DA , NillesenWM, VersteegMHet al.: Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J. Med. Genet.41, 892–899 (2004).
  • Monfort S , OrellanaC, OltraSet al.: Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements.J. Lab. Clin. Med.147, 295–300 (2006).
  • Northrop EL , RenH, BrunoDLet al.: Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay.Hum. Mutat.26, 477–486 (2005).
  • Palomares M , DelicadoA, LapunzinaPet al.: MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation. Clin. Genet.69, 228–233 (2006).
  • Rooms L , ReyniersE, van Luijk Ret al.: Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA). Hum. Mutat.23, 17–21 (2004).
  • Rooms L , ReyniersE, WuytsWet al.: Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.Clin. Genet.69, 58–64 (2006).
  • Howald C , MerlaG, DigilioMCet al.: Two high throughput technologies to detect segmental aneuploidies identify new Williams–Beuren syndrome patients with atypical deletions.J. Med. Genet.43, 266–273 (2006).
  • Zweier C , ThielCT, DufkeAet al.: Clinical and mutational spectrum of Mowa–Wilson syndrome.Eur. J. Med. Genet.48, 97–111 (2005).
  • Pickard BS , HolloxEJ, MalloyMPet al.: A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation.BMC. Med. Genet.5, 21 (2004).
  • Nishimura DY , SwiderskiRE, SearbyCCet al.: Comparative genomics and gene expression analysis identifies BBS9, a new Bardet–Biedl syndrome gene. Am. J. Hum. Genet.77, 1021–1033 (2005).
  • Chiang AP , BeckJS, YenHJet al.: Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene (BBS11).Proc. Natl Acad. Sci. USA103, 6287–6292 (2006).
  • Garshasbi M , MotazackerMM, KahriziKet al.: SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum. Genet.118, 708–715 (2006).
  • Huang J , WeiW, ZhangJet al.: Whole genome DNA copy number changes identified by high density oligonucleotide arrays.Hum. Genomics1, 287–299 (2004).
  • Huang J , WeiW, ChenJet al.: CARAT: a novel method for allelic detection of DNA copy number changes using high density oligonucleotide arrays.BMC. Bioinformatics7, 83 (2006).
  • Lai Y , ZhaoH: A statistical method to detect chromosomal regions with DNA copy number alterations using SNP-array-based CGH data.Comput. Biol. Chem.29, 47–54 (2005).
  • Zhou X , RaoNP, ColeSWet al.: Progress in concurrent analysis of loss of heterozygosity and comparative genomic hybridization utilizing high density single nucleotide polymorphism arrays.Cancer Genet. Cytogenet.159, 53–57 (2005).
  • Nicolae DL , WenX, VoightBF, CoxNJ: Coverage and Characteristics of the Affymetrix GeneChip Human Mapping 100K SNP Set.PLoS. Genet.2, e67 (2006).
  • Dhami P , CoffeyAJ, AbbsSet al.: Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome.Am. J. Hum. Genet.76, 750–762 (2005).
  • Service RF : Gene sequencing. The race for the $1000 genome.Science311, 1544–1546 (2006).
  • Stenson PD , BallEV, MortMet al.: Human Gene Mutation Database (HGMD): 2003 update.Hum. Mutat.21, 577–581 (2003).
  • Sullivan PF , FanC, PerouCM: Evaluating the comparability of gene expression in blood and brain.Am. J. Med. Genet. B. Neuropsychiatr. Genet.141, 261–268 (2006).
  • Baker KE , ParkerR: Nonsense-mediated mRNA decay: terminating erroneous gene expression.Curr. Opin. Cell Biol.16, 293–299 (2004).
  • Schumacher A , KapranovP, KaminskyZet al.: Microarray-based DNA methylation profiling: technology and applications. Nucleic Acids Res.34, 528–542 (2006).
  • Lejeune J , TurpinR, GautierM: Mongolism: a chromosomal disease (trisomy).Bull. Acad. Natl Med.143, 256–265 (1959).
  • Wattendorf DJ , MuenkeM: Prader–Willi syndrome.Am. Fam. Physician72, 827–830 (2005).
  • Williams CA , BeaudetAL, Clayton-SmithJet al.: Angelman syndrome 2005: updated consensus for diagnostic criteria.Am. J. Med. Genet. A.140, 413–418 (2006).
  • Kremer EJ , PritchardM, LynchMet al.: Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.Science252, 1711–1714 (1991).
  • Amir RE , Van den Veyver IB, Wan Met al.: Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.Nat. Genet.23, 185–188 (1999).
  • Kalscheuer VM , FreudeK, MusanteLet al.: Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.Nat. Genet.35, 313–315 (2003).
  • Zanni G , SaillourY, NagaraMet al.: Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.Neurology65, 1364–1369 (2005).
  • Van Esch H , BautersM, IgnatiusJet al.: Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.Am. J. Hum. Genet.77, 442–453 (2005).
  • Kleefstra T , HamelBC: X-linked mental retardation: further lumping, splitting and emerging phenotypes.Clin. Genet.67, 451–467 (2005).
  • Raymond FL : X linked mental retardation: a clinical guide.J. Med. Genet.43, 193–200 (2006).
  • Salomons GS , van Dooren SJ, Verhoeven NMet al.: X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am. J. Hum. Genet.68, 1497–1500 (2001).
  • Garg U , DasoukiM: Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects.Clin. Biochem.39, 315–332 (2006).
  • Poplawski NK , HarrisonJR, NortonW, WiltshireE, FletcherJM: Urine amino and organic acids analysis in developmental delay or intellectual disability.J. Paediatr. Child Health38, 475–480 (2002).
  • Swarna M , JyothyA, UshaRP, ReddyPP: Amino acid disorders in mental retardation: a two-decade study from Andhra Pradesh.Biochem. Genet.42, 85–98 (2004).
  • Van Buggenhout GJ , TrijbelsJM, WeversRet al.: Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype.Genet. Couns.12, 1–21 (2001).
  • Clark AJ , RosenbergEH, AlmeidaLSet al.: X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.Hum. Genet.119, 604–610 (2006).
  • Baroncini A , RivieriF, CapucciAet al.: FISH screening for subtelomeric rearrangements in 219 patients with idiopathic mental retardation and normal karyotype.Eur. J. Med. Genet.48, 388–396 (2005).
  • de Vries BB , WinterR, SchinzelA, Ravenswaaij-ArtsC: Telomeres: a diagnosis at the end of the chromosomes.J. Med. Genet.40, 385–398 (2003).
  • Kok K , DijkhuizenT, SwartYEet al.: Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation.Eur. J. Med. Genet.48, 250–262 (2005).
  • Moog U , ArensYH, van Lent-Albrechts JCet al.: Subtelomeric chromosome aberrations: still a lot to learn. Clin. Genet.68, 397–407 (2005).
  • Kleefstra T , SmidtM, BanningMJet al.: Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.J. Med. Genet.42, 299–306 (2005).
  • Kleefstra T , BrunnerHG, AmielJet al.: Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.Am. J. Hum. Genet.79, 370–377 (2006).
  • Vriend G : WHAT IF: a molecular modeling and drug design program.J. Mol. Graph.8, 52–6, 29 (1990).
  • Huang D , SunW, StromCM: Sequence variations in AGTR2 are unlikely to be associated with X-linked mental retardation.Am. J. Med. Genet. A.139, 243–244 (2005).
  • Vervoort VS , GuzauskasG, ArchieJet al.: AGTR2 in brain development and function.Am. J. Med. Genet. A.140, 419–420 (2006).
  • Skuse DH : X-linked genes and mental functioning.Hum. Mol. Genet.14(Spec. No. 1), R27–R32 (2005).
  • Skuse DH : Behavioural neuroscience and child psychopathology: insights from model systems.J. Child Psychol. Psych.41, 3–31 (2000).
  • Francis F , MeyerG, Fallet-BiancoCet al.: Human disorders of cortical development: from past to present.Eur. J. Neurosci.23, 877–893 (2006).
  • Pimenta AF , LevittP: Applications of gene targeting technology to mental retardation and developmental disability research.Ment. Retard. Dev. Disabil. Res. Rev.11, 295–302 (2005).
  • Inlow JK , RestifoLL: Molecular and comparative genetics of mental retardation.Genetics166, 835–881 (2004).
  • Warrick JM , PaulsonHL, Gray-BoardGLet al.: Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila. Cell93, 939–949 (1998).
  • Zhang YQ , BroadieK: Fathoming fragile X in fruit flies.Trends Genet.21, 37–45 (2005).
  • Putz G , BertolucciF, RaabeT, ZarsT, HeisenbergM: The S6KII (rsk) gene of Drosophila melanogaster differentially affects an operant and a classical learning task.J. Neurosci.24, 9745–9751 (2004).
  • Adachi M , KeeferEW, JonesFS: A segment of the Mecp2 promoter is sufficient to drive expression in neurons.Hum. Mol. Genet.14, 3709–3722 (2005).
  • Arocena DG , IwahashiCK, WonNet al.: Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells.Hum. Mol. Genet.14, 3661–3671 (2005).
  • Saud K , ArriagadaC, CardenasAMet al.: Neuronal dysfunction in Down syndrome: contribution of neuronal models in cell culture.J. Physiol Paris99, 201–210 (2006).
  • McBride SM , ChoiCH, WangYet al.: Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome.Neuron45, 753–764 (2005).

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