Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation

American Journal of Medical Genetics, Part A

Volumn 152, Issue 3, 2010, Pages 638-645

  Lugtenberg, Dorien ^a   Zangrande Vieira, Luiz ^b   Kirchhoff, Maria ^c   Whibley, Annabel C ^d   Oudakker, Astrid R ^a   Kjaergaard, Susanne ^c   Vianna Morgante, Angela M ^b   Kleefstra, Tjitske ^a   Ruiter, Mariken ^a   Jehee, Fernanda S ^b   Ullmann, Reinhard ^e   Schwartz, Charles E ^f   Stratton, Michael ^d,g   Raymond, F Lucy ^d   Veltman, Joris A ^a   Vrijenhoek, Terry ^a   Pfundt, Rolph ^a   Schuurs Hoeijmakers, Janneke H M ^a   Hehir Kwa, Jayne Y ^a   Froyen, Guy ^h   Chelly, Jamel ⁱ   Ropers, Hans Hilger ^e   Moraine, Claude ^j   Gécz, Jozef ^k   Knijnenburg, Jeroen ^l   Kant, Sarina G ^l   Hamel, Ben C J ^a   Rosenberg, Carla ^b,m   Van Bokhoven, Hans ^a   De Brouwer, Arjan P M ^a   more..

^a RADBOUD UNIVERSITY   (Netherlands)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c Rigshospitalet   (Denmark)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^f GREENWOOD GENETIC CENTER   (United States)

^g INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^h UNIVERSITY OF LEUVEN   (Belgium)

ⁱ UNIVERSITÉ PARIS DESCARTES   (France)

^j UNIVERSITY HOSPITAL OF TOURS   (France)

^k UNIVERSITY OF ADELAIDE   (Australia)

^l LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^m A C CAMARGO CANCER CENTER   (Brazil)

more..

Author keywords

Copy number variation; Mental retardation; Non allelichomologous recombination; Xp11 zinc finger cluster; ZNF630

Indexed keywords

ARTICLE; AUSTRALIA; BRAZIL; CLINICAL FEATURE; CONTROLLED STUDY; EUROPE; GENE; GENE DELETION; GENE DUPLICATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HOMOLOGOUS RECOMBINATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; UNITED STATES; ZNF630 GENE;

CASE-CONTROL STUDIES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; COHORT STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; HUMANS; MALE; MENTAL RETARDATION; MENTAL RETARDATION, X-LINKED; PEDIGREE; PHENOTYPE; RECOMBINATION, GENETIC; REPRESSOR PROTEINS;

PRIMATES;

EID: 77649210940     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33292     Document Type: Article

References (27)

1. Chelly J, Khelfaoui M, Francis F, Cherif B, Bienvenu T. 2006. Genetics and pathophysiology of mental retardation. Eur J Hum Genet 14:701-713.
2. Chen W, Erdogan F, Ropers HH, Lenzner S, Ullmann R. 2005. CGHPRO - A comprehensive data analysis tool for array CGH. BMC Bioinformatics 6:85.
3. Cleveland WS. 1979. Robust locally weighted regression and smoothing scatterplots. J Amer Stat Assoc 74:829-836.
4. de Brouwer AP, van BH, Kremer H. 2006. Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts. Mol Diagn Ther 10:197-204.
5. de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints SG, Froyen G, Fryns JP, Raynaud M, Moizard MP, Ronce N, Bensalem A, Moraine C, Poirier K, Castelnau L, Saillour Y, Bienvenu T, Beldjord C, des PV, Chelly J, Turner G, Fullston T, Gecz J, Kuss AW, Tzschach A, Jensen LR, Lenzner S, Kalscheuer VM, Ropers HH, Hamel BC. 2007. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat 28:207-208.
6. Dehal P, Predki P, Olsen AS, Kobayashi A, Folta P, Lucas S, Land M, Terry A, Ecale Zhou CL, Rash S, Zhang Q, Gordon L, Kim J, Elkin C, Pollard MJ, Richardson P, Rokhsar D, Uberbacher E, Hawkins T, Branscomb E, Stubbs L. 2001. Human chromosome 19 and related regions in mouse: conservative and lineage-specific evolution. Science 293:104-111.
7. Erdogan F, Chen W, Kirchhoff M, Kalscheuer VM, Hultschig C, Muller I, Schulz R, Menzel C, Bryndorf T, Ropers HH, Ullmann R. 2006. Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenet Genome Res 115:247-253.
8. Fredman D, White SJ, Potter S, Eichler EE, den Dunnen JT, Brookes AJ. 2004. Complex SNP-related sequence variation in segmental genome duplications. Nat Genet 36:861-866.
9. Hehir-Kwa JY, Egmont-Petersen M, Janssen IM, Smeets D, van Kessel AG, Veltman JA. 2007. Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: A platform comparison based on statistical power analysis. DNA Res 14:1-11.
10. Herbst DS, Miller JR. 1980. Nonspecific X-linked mental retardation II: The frequency in British Columbia. Am J Med Genet 7:461-469.
11. Inlow JK, Restifo LL. 2004. Molecular and comparative genetics of mental retardation. Genetics 166:835-881.
12. Kleefstra T, Yntema HG, Oudakker AR, Banning MJ, Kalscheuer VM, Chelly J, Moraine C, Ropers HH, Fryns JP, Janssen IM, Sistermans EA, Nillesen WN, de Vries LB, Hamel BC, van Bokhoven H. 2004. Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. J Med Genet 41:394-399.
13. Leonard H, Wen X. 2002. The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 8:117-134.
14. Livak KJ, Schmittgen TD. 2001. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25:402-408.
15. Lugtenberg D, de Brouwer AP, Kleefstra T, Oudakker AR, Frints SG, Schrander-Stumpel CT, Fryns JP, Jensen LR, Chelly J, Moraine C, Turner G, Veltman JA, Hamel BC, de Vries BB, van Bokhoven H, Yntema HG. 2006a. Chromosomal copy number changes in patients with non-syndromic X-linked mental retardation detected by array CGH. J Med Genet 43:362-370.
16. Lugtenberg D, Yntema HG, Banning MJ, Oudakker AR, Firth HV, Willatt L, Raynaud M, Kleefstra T, Fryns JP, Ropers HH, Chelly J, Moraine C, Gecz J, Reeuwijk J, Nabuurs SB, de Vries BB, Hamel BC, de Brouwer AP, van Bokhoven H. 2006b. ZNF674: A New Kruppel-Associated Box-Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation. Am J Hum Genet 78:265-278.
17. Mandel JL, Chelly J. 2004. Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. Eur J Hum Genet 12:689-693.
18. Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP. 2008. Genotype-phenotype correlations in MYCN-related Feingold syndrome. Hum Mutat 29:1125-1132.
19. McCarthy J. 2007. Children with autism spectrum disorders and intellectual disability. Curr Opin Psychiatry 20:472-476.
20. Nannya Y, Sanada M, Nakazaki K, Hosoya N, Wang L, Hangaishi A, Kurokawa M, Chiba S, Bailey DK, Kennedy GC, Ogawa S. 2005. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res 65:6071-6079.
21. Pfaffl MW. 2001. A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res 29:e45.
22. Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante AM, Sloos W, Otto PA, Kriek M, Hansson K, Krepischi-Santos AC, Fiegler H, Carter NP, Bijlsma EK, van HA, Szuhai K, Tanke HJ. 2006. 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.
23. Rozen S, Skaletsky H. 2000. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132:365-386.
24. Shannon M, Hamilton AT, Gordon L, Branscomb E, Stubbs L. 2003. Differential expansion of zinc-finger transcription factor loci in homologous human and mouse gene clusters. Genome Res 13: 1097-1110.
25. Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, Hoeltzenbein M, Echenne B, Partington M, van Bokhoven H, Moraine C, Fryns JP, Chelly J, Rott HD, Ropers HH, Kalscheuer M. 2003. Mutations in the ZNF41 Gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet 73:1341-1354.
26. Stevenson RE, Schwartz CE, Schroer RJ. 2000. X-linked mental retardation. New York, Oxford: Oxford University Press.
27. Stubbs L, Carver EA, Shannon ME, Kim J, Geisler J, Generoso EE, Stanford BG, Dunn WC, Mohrenweiser H, Zimmermann W, Watt SM, Ashworth LK. 1996. Detailed comparative map of human chromosome 19q and related regions of the mouse genome. Genomics 35:499-508.