Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area

European Journal of Human Genetics

Volumn 16, Issue 6, 2008, Pages 696-704

  Floris, Chiara ^a   Rassu, Stefania ^b   Boccone, Loredana ^c   Gasperini, Daniela ^c   Cao, Antonio ^a   Crisponi, Laura ^a  

^a CNR   (Italy)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c Osp Regionale per le Microcitemie   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CUB AND SUSHI MULTIPLE DOMAIN 3 PROTEIN; GENE PRODUCT; PROTEIN CSMD3;

ARTICLE; AUTISM; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME 5Q; CHROMOSOME 6Q; CHROMOSOME 8Q; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION 5; CHROMOSOME TRANSLOCATION 6; CHROMOSOME TRANSLOCATION 8; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT;

AUTISTIC DISORDER; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOME FRAGILE SITES; CHROMOSOMES, HUMAN, PAIR 5; CHROMOSOMES, HUMAN, PAIR 6; CHROMOSOMES, HUMAN, PAIR 8; DNA PRIMERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MEMBRANE PROTEINS; TRANSLOCATION, GENETIC;

EID: 44449119466     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.7     Document Type: Article

References (38)

1. Muhle R, Trentacoste SV, Rapin I: The genetics of autism. Pediatrics 2004; 113: 472-486.
2. American Psychiatric Association: DSM-IV - Diagnosis and Statistical Manual of Mental Disorders 1994, (4th edn) American Psychiatric Publishing: Washington DC.
3. Ishikawa-Brush Y, Powell JF, Bolton P: Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3′ to the SDC2 gene. Hum Mol Genet 1997; 6: 1241-1250.
4. BeHudet AL: Autism: highly heritable but not inherited. Nat Med 2007; 13: 534-536.
5. Vorstman J, Staal WG, van Daalen E, van Engeland H, Hochstenbach PFR, Franke L: Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 2006; 11: 18-28.
6. Sebat J, Lakshmi B, Malhotra D et al: Strong association of de novo copy number mutations with autism. Science 2007; 316 445-449.
7. Schanen NC: Epigenetics of autism spectrum disorders. Hum Mol Genet 2006; 15: 138-150.
8. Badcock C, Crespi B: Imbalanced genomic imprinting in brain development: an evolutionary basis for the aetiology of autism. J Evol Biol 2006; 19: 1007-1032.
9. 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.
10. Yonan AL, Alarcón M, Cheng R et al: A genomewide screen of 345 families for autism-susceptibility loci. Am J Hum Genet 2003; 73: 886-897.
11. Freitag CM: The genetics of autistic disorders and its clinical relevance: A review of the literature. Mol Psychiatry 2007; 12 2-22.
12. Herbert MR, Russo JP, Yang S et al: Autism and environmental genomics. Neurotoxicology 2006; 27: 671-684.
13. Philippe A, Martinez M, Guilloud-Bataille M et al: Genome-wide scan for autism susceptibility genes. Hum Mol Genet 1999; 8: 805-812.
14. Serajee FJ, Nabi R, Zhong H, Mahbubul Huq AH: Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism. J Med Genet 2003; 40: 119.
15. Gong X, Jia M, Ruan Y et al: Association between the FOXP2 gene and autistic disorder in Chinese population. Am J Med Genet B Neuropsychiatr Genet 2004; 127: 113-116.
16. McCauley JL, Olson LM, Delahanty R et al: A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism. Am J Med Genet B Neuropsychiatr Genet 2004; 13: 51-59.
17. Persico AM, Bourgeron T: Searching for ways out of the autism maze: genetic, epigenetic and environmental clues. Trends Neurosci 2006; 29: 349-358.
18. Castermans D, Vermeesch JR, Fryns JP et al: Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. Eur J Hum Genet 2007; 15: 422-431.
19. Castermans D, Wilquet V, Steyaert J, Van De Ven W, Fryns JP, Devriendt K: Chromosomal anomalies in individuals with autism. Autism 2004; 8: 141-161.
20. Reddy KS: Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder. BMC Med Genet 2005; 6: 1-16.
21. Ylisaukko-oja T, Alarcón M, Cantor RM, Auranen M, Vanhala R, Kempas E: Search for autism loci by combined analysis of Autism genetic resource exchange and Finnish families. Ann Neurol 2006; 59: 145-155.
22. Shimizu A, Asakawa S, Sasaki T et al: A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: A candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1. Biochem Biophys Res Commun 2003; 309: 143-154.
23. Ling Lau W, Scholnick SB: Identification of two new members of the CSMD gene family. Genomics 2003; 82: 412-415.
24. Momeni P, Glockner G, Schmidt O et al: Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genetic 2000; 24: 71-74.
25. Ludecke HJ, Wagner MJ, Nardmann J et al: Molecular dissection of a contiguous gene syndrome: Localization of the genes involved in the Langer-Giedion syndrome. Hum Mol Genet 1995; 4: 31-36.
26. Lin Q, Schwarz J, Bucana C, Olson EN: Control of mouse cardiac morphogenesis and myogenesis by transcription factor MEF2C. Science 1997; 276: 1404-1407.
27. Leifer D, Krainc D, Yu YT et al: MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex. Proc Natl Acad Sci USA 1993; 90: 1546-1550.
28. Middendorp S, Paoletti A, Schiebel E, Bornens M: Identification of a new mammalian centrin gene, more closely related to Saccharomyces cerevisiae CDC31 gene. Proc Natl Acad Sci USA 1997; 94: 9141-9146.
29. Lin M, Sutherland DR, Horsfall W et al: Cell surface antigen CD109 is a novel member of the alpha(2) macroglobulin/C3, C4, C5 family of thioester-containing proteins. Blood 2002; 99: 1683-1691.
30. Gerecke DR, Olson PF, Koch M et al: Complete primary structure of two splice variants of collagen XII, and assignment of alpha 1(XII) collagen (COL12A1), alpha 1(IX) collagen (COL9A1), and alpha 1(XIX) collagen (COL19A1) to human chromosome 6q12-q13. Genomics 1997; 41: 236-242.
31. Verheijen FW, Verbeek E, Aula N, Beerens CEMT, Havelaar AC, Joosse M: New gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nat Genet 1999; 23: 462-465.
32. Crisponi L, Deiana M, Loi A et al: The putative forkhead transcription factor FOXL2 is mutated in blefarophimosis/ptosis/ epicanthus inversus syndrome. Nat genetics 2001; 27: 159-166.
33. Srivastava AK, Montoen O, Saarialho-Kere U et al: Fine mapping of the EDA gene: A traslocation breakpoint is associated with a CpG island that is transcribed. Am J Hum Genet 1996; 1: 126-132.
34. Tadin-Strapps M, Warburton D, Salas-Alanis JC, Lopez-Cepeda LD, Christiano AM: Fishing for new geIes in skin biology: impact of cytogenetics on gene discovery. Clin Genet 2004; 66: 94-106.
35. Kleinjan DJ, van Heyningen V: Position effect in human genetic disease. Hum Mol Genet 1998; 7: 1611-1618.
36. Velagaletti GVN, Bien-Willner GA, Northup JK et al: Position effects due to chromosome breakpoints that map ∼ 900 Kb upstream and ∼1.3Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet 2005; 76: 652-662.
37. Mikami M, Yasuda T, Terao A: Localization of a gene for benign adult familiar myoclonic epilepsy to chromosome 8q23.3-q24.1. Am J Hum Genet 1999; 65: 745-751.
38. Richter MT, Tong BD, Scholnick SB: Epigenetic inactivation and aberrant transcription of CSMD1 in squamous cell carcinoma cell lines. Cancer Cell Int 2005; 5: 29.