Autism-associated familial microdeletion of Xp11.22

Clinical Genetics

Volumn 74, Issue 2, 2008, Pages 134-144

  Qiao, Y ^a,b   Liu, X ^b,c   Harvard, C ^a,b   Hildebrand, M J ^a,b   Rajcan Separovic, E ^a,b   Holden, J J A ^b,c,d   Lewis, M E Suzanne ^a,b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b ASD CARC   (Canada)

^c QUEEN S UNIVERSITY   (Canada)

^d Autism Research Program   (Canada)

Author keywords

Array comparative genomic hybridization; Autism spectrum disorder; Cleft lip palate; Microdeletion of Xp11.22; X linked mental retardation

Indexed keywords

HOMEODOMAIN PROTEIN; PLANT HOMEODOMAIN FINGER PROTEIN 8; PROTEIN KINASE WNK3; PROTEIN SERINE THREONINE KINASE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FAM120C;

ARTICLE; AUTISM; CASE REPORT; CHROMOSOME ABERRATION; CHROMOSOME DELETION X; CHROMOSOME INACTIVATION; CHROMOSOME XP; CHROMOSOME XP11; CLEFT LIP PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DISEASE ASSOCIATION; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; INHERITANCE; INTELLECTUAL IMPAIRMENT; MALE; MENTAL DEFICIENCY; PATHOGENESIS; PEDIGREE ANALYSIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD;

AUTISTIC DISORDER; CASE-CONTROL STUDIES; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; CLEFT LIP; CLEFT PALATE; FAMILY HEALTH; FEMALE; GENE DELETION; HUMANS; MALE; MASS SCREENING; MEMBRANE PROTEINS; MENTAL DISORDERS; MENTAL RETARDATION, X-LINKED; PEDIGREE; PROTEIN-SERINE-THREONINE KINASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SIBLINGS; TRANSCRIPTION FACTORS; X CHROMOSOME INACTIVATION;

EID: 47149108541     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01028.x     Document Type: Article

References (31)

1. Fombonne E. Epidemiology of autistic disorder and other pervasive developmental disorders. J Clin Psychiatry 2005: 66 (Suppl. 10): 3-8.
2. Ropers HH. X-linked mental retardation: Many genes for a complex disorder. Curr Opin Genet Dev 2006: 16: 260-269.
3. Freitag CM. The genetics of autistic disorders and its clinical relevance: A review of the literature. Mol Psychiatry 2007: 12: 2-22.
4. Vorstman JA, Staal WG, van Daalen E et al. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 2006: 11 (1): 18-28.
5. Jamain S, Quach H, Betancur C et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 2003: 34: 27-29.
6. Szatmari P, Paterson AD, Zwaigenbaum L et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007: 39: 319-328.
7. Thiselton DL, McDowall J, Brandau O et al. An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders. Genomics 2002: 79: 560-572.
8. Puck JM, Willard HF. X inactivation in females with X-linked disease. N Engl J Med 1998: 338: 325-328.
9. Siderius LE, Hamel BC, van Bokhoven H et al. X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3. Am J Med Genet 1999: 85: 216-220.
10. Laumonnier F, Holbert S, Ronce N et al. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. J Med Genet 2005: 42: 780-786.
11. Abidi F, Miano M, Murray J et al. A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate. Clin Genet 2007: 72: 19-22.
12. Froyen G, Bauters M, Boyle J 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. Hum Genet 2007: 121: 539-547.
13. Raynaud M, Gendrot C, Dessay B et al. X-linked mental retardation with neonatal hypotonia in a French family (MRX15): Gene assignment to Xp11.22-Xp21.1. Am J Med Genet 1996: 64: 97-106.
14. Koivisto A, Ala-Mello S, Lemmela S et al. Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate. Clin Genet 2007: 72: 145-149.
15. Lord C, Risi S, Lambrecht L et al. The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000: 30: 205-223.
16. Lord C, Rutter M, Le Couteur A. Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 1994: 24: 659-685.
17. Geschwind DH, Sowinski J, Lord C et al. The autism genetic resource exchange: A resource for the study of autism and related neuropsychiatric conditions. Am J Hum Genet 2001: 69: 463-466.
18. Rajcan-Separovic E, Harvard C, Liu X et al. Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1. J Med Genet 2007: 44: 269-276.
19. Weksberg R, Hughes S, Moldovan L et al. A method for accurate detection of genomic microdeletions using real-time quantitative PCR. BMC Genomics 2005: 6: 180.
20. Allen RC, Zoghbi HY, Moseley AB et al. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992: 51: 1229-1239.
21. Bonnet C, Gregoire MJ, Brochet K et al. Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: Phenotypic and molecular characterization. J Hum Genet 2006: 51: 815-821.
22. Merla G, Howald C, Henrichsen CN et al. Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet 2006: 79: 332-341.
23. Jensen LR, Amende M, Gurok U et al. Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet 2005: 76: 227-236.
24. Holden S, Raymond FL. The human gene CXorf17 encodes a member of a novel family of putative transmembrane proteins: CDNA cloning and characterization of CXorf17 and its mouse ortholog orf34. Gene 2003: 318: 149-161.
25. Holden S, Cox J, Raymond FL. Cloning, genomic organization, alternative splicing and expression analysis of the human gene WNK3 (PRKWNK3). Gene 2004: 335: 109-119.
26. Kahle KT, Rinehart J, de Los Heros P et al. WNK3 modulates transport of Cl- in and out of cells: Implications for control of cell volume and neuronal excitability. Proc Natl Acad Sci U S A 2005: 102: 16783-16788.
27. Dhossche D, Applegate H, Abraham A et al. Elevated plasma gamma-aminobutyric acid (GABA) levels in autistic youngsters: Stimulus for a GABA hypothesis of autism. Med Sci Monit 2002: 8: PR1-PR6.
28. Rolf LH, Haarmann FY, Grotemeyer KH et al. Serotonin and amino acid content in platelets of autistic children. Acta Psychiatr Scand 1993: 87: 312-316.
29. Delorey TM, Sahbaie P, Hashemi E et al. Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: A potential model of autism spectrum disorder. Behav Brain Res 2008: 187: 207-220.
30. Baroni T, Bellucci C, Lilli C et al. Retinoic acid, GABA-ergic, and TGF-beta signaling systems are involved in human cleft palate fibroblast phenotype. Mol Med 2006: 12: 237-245.
31. Jacquemont ML, Sanlaville D, Redon R et al. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet 2006: 43: 843-849.