High-resolution genomic microarrays for X-linked mental retardation

Developments in genomic microarray technology have revolutionized the study of human genomic copy number variation. This has significantly affected many areas in human genetics, including the field of X-linked mental retardation (XLMR). Chromosome X-specific bacterial artificial chromosomes microarrays have been developed to specifically test this chromosome with a resolution of approximately 100 kilobases. Application of these microarrays in X-linked mental retardation studies has resulted in the identification of novel X-linked mental retardation genes, copy number variation at known X-linked mental retardation genes, and copy number variations harboring as yet unidentified X-linked mental retardation genes. Further enhancements in genomic microarray analysis will soon allow the reliable analysis of all copy number variations throughout this chromosome at the kilobase or single exon resolution. In this review, we describe the developments in this field and specifically highlight the impact of these microarray studies in the field of X-linked mental retardation.

[1]  J. Inazawa,et al.  Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis , 2007, Journal of Human Genetics.

[2]  J. Gécz,et al.  Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region , 2007, Human Genetics.

[3]  H. Van Esch,et al.  Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes , 2007, American journal of medical genetics. Part A.

[4]  Simon Sanderson,et al.  Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: Systematic review meta-analysis of diagnostic and false-positive yields , 2007, Genetics in Medicine.

[5]  S. Grant,et al.  The role of neuronal complexes in human X-linked brain diseases. , 2007, American journal of human genetics.

[6]  Andrew Menzies,et al.  Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. , 2007, American journal of human genetics.

[7]  J. Gécz,et al.  Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium , 2007, Human mutation.

[8]  Allan R. Jones,et al.  Genome-wide atlas of gene expression in the adult mouse brain , 2007, Nature.

[9]  R. Stevenson,et al.  Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28 , 2006, Pediatrics.

[10]  Ankita Patel,et al.  Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males , 2006, Genetics in Medicine.

[11]  D. Conrad,et al.  Global variation in copy number in the human genome , 2006, Nature.

[12]  Juliane Hoyer,et al.  Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation , 2006, American journal of medical genetics. Part A.

[13]  Ryan E. Mills,et al.  An initial map of insertion and deletion (INDEL) variation in the human genome. , 2006, Genome research.

[14]  Sarah Barber,et al.  Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. , 2006, American journal of human genetics.

[15]  K. Gunderson,et al.  High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. , 2006, Genome research.

[16]  P. Jonveaux,et al.  Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization , 2006, Journal of Human Genetics.

[17]  E. Eichler,et al.  Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. , 2006, American journal of human genetics.

[18]  G Mortier,et al.  Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports , 2006, Journal of Medical Genetics.

[19]  Sander B Nabuurs,et al.  ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. , 2006, American journal of human genetics.

[20]  J. Opitz,et al.  An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array‐CGH) defines a new locus (FGS5) for FG syndrome , 2005, American journal of medical genetics. Part A.

[21]  M Somerville,et al.  Submicroscopic deletions and duplications in individuals with intellectual disability detected by array‐CGH , 2005, American journal of medical genetics. Part A.

[22]  T. Richmond,et al.  Analysis of chromosome breakpoints in neuroblastoma at sub‐kilobase resolution using fine‐tiling oligonucleotide array CGH , 2005, Genes, chromosomes & cancer.

[23]  Ton Feuth,et al.  Diagnostic genome profiling in mental retardation. , 2005, American journal of human genetics.

[24]  B. D. de Vries,et al.  Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH , 2005, Journal of Medical Genetics.

[25]  J. Gécz,et al.  Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. , 2005, American journal of human genetics.

[26]  C. Walsh,et al.  The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation , 2005, Journal of Medical Genetics.

[27]  E. Eichler,et al.  Segmental duplications and copy-number variation in the human genome. , 2005, American journal of human genetics.

[28]  P. Marynen,et al.  X chromosome array-CGH for the identification of novel X-linked mental retardation genes. , 2005, European journal of medical genetics.

[29]  E. Eichler,et al.  Fine-scale structural variation of the human genome , 2005, Nature Genetics.

[30]  K. Hameister,et al.  Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome , 2005, Journal of Medical Genetics.

[31]  Robert Kincaid,et al.  Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[32]  F. Rüschendorf,et al.  Molecular karyotyping using an SNP array for genomewide genotyping , 2004, Journal of Medical Genetics.

[33]  J. Higgins,et al.  A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation , 2004, Neurology.

[34]  L. Feuk,et al.  Detection of large-scale variation in the human genome , 2004, Nature Genetics.

[35]  S. Forrest,et al.  Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3 , 2004, Journal of Medical Genetics.

[36]  P. D. de Jong,et al.  High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation , 2004, Journal of Medical Genetics.

[37]  H. Ropers,et al.  Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation , 2004, Journal of Medical Genetics.

[38]  R. Jaenisch,et al.  Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[39]  M Bobrow,et al.  Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features , 2004, Journal of Medical Genetics.

[40]  Bradley P. Coe,et al.  A tiling resolution DNA microarray with complete coverage of the human genome , 2004, Nature Genetics.

[41]  Jennifer K Inlow,et al.  Molecular and comparative genetics of mental retardation. , 2004, Genetics.

[42]  H. Ropers,et al.  Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. , 2003, American journal of human genetics.

[43]  Ton Feuth,et al.  Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. , 2003, American journal of human genetics.

[44]  N. Carter,et al.  DNA microarrays for comparative genomic hybridization based on DOP‐PCR amplification of BAC and PAC clones , 2003, Genes, chromosomes & cancer.

[45]  A. Munnich,et al.  Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation , 2002, Science.

[46]  D. Zwijnenburg,et al.  Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. , 2002, Nucleic acids research.

[47]  H. Ropers,et al.  FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation , 2002, Nature Genetics.

[48]  G. Ramakers.  Rho proteins and the cellular mechanisms of mental retardation. , 2000, American journal of medical genetics.

[49]  Lin Jun,et al.  A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation , 1999, Nature Genetics.

[50]  P. Decouflé,et al.  Reported biomedical causes and associated medical conditions for mental retardation among 10‐year‐old children, metropolitan Atlanta, 1985 to 1987 , 1997, Developmental medicine and child neurology.

[51]  Nel Roeleveld,et al.  The prevalence of mental retardation: a critical review of recent literature , 1997, Developmental medicine and child neurology.

[52]  H. Osaka,et al.  A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. , 1996, American journal of human genetics.

[53]  A. Monaco,et al.  Isolation of a candidate gene for Norrie disease by positional cloning , 1992, Nature Genetics.

[54]  Sonja W. Scholz,et al.  Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. , 2007, Human molecular genetics.

[55]  Pardis C Sabeti,et al.  Common deletion polymorphisms in the human genome , 2006, Nature Genetics.

[56]  H. Ropers,et al.  X-linked mental retardation , 2005, Nature Reviews Genetics.

[57]  H. Leonard,et al.  The epidemiology of mental retardation: challenges and opportunities in the new millennium. , 2002, Mental retardation and developmental disabilities research reviews.