Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH

Clinical Genetics

Volumn 84, Issue 1, 2013, Pages 31-36

  Rio, M ^a   Royer, G ^a   Gobin, S ^a   de Blois, Mc ^a   Ozilou, C ^a   Bernheim, A ^b   Nizon, M ^a   Munnich, A ^a   Bonnefont, J P ^a   Romana, S ^a   Vekemans, M ^a   Turleau, C ^a   Malan, V ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b INSTITUT GUSTAVE ROUSSY   (France)

Author keywords

2p25.3; Array CGH; Monozygotic twins; MYT1L gene; SNTG2 gene

Indexed keywords

ARTICLE; AUTISM; CASE REPORT; CELL POPULATION; CHEEK MUCOSA; CHILD; CHROMOSOME 2P; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME MOSAICISM; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENE FREQUENCY; GENETIC RECOMBINATION; GENOTYPE; HUMAN; HYPERACTIVITY; KARYOTYPING; LEUKOCYTE; MICROSATELLITE MARKER; MONOZYGOTIC TWINS; OBESITY; PRESCHOOL CHILD; PRIORITY JOURNAL; TWIN DISCORDANCE;

AUTISTIC DISORDER; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; DISEASES IN TWINS; FEMALE; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MEMBRANE PROTEINS; MOSAICISM; MUSCLE PROTEINS; NERVE TISSUE PROTEINS; PHENOTYPE; RECOMBINATION, GENETIC; TRANSCRIPTION FACTORS; TWINS, MONOZYGOTIC;

EID: 84879738876     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12036     Document Type: Article

References (28)

1. Fryer A. Monozygotic twins with 22q11 deletion and discordant phenotypes. J Med Genet 1996: 33: 173.
2. Gringras P, Chen W. Mechanisms for differences in monozygous twins. Early Hum Dev 2001: 64: 105-117.
3. Fraga MF, Ballestar E, Paz MF et al. Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci USA 2005: 102: 10604-10609.
4. Kaminsky ZA, Tang T, Wang SC et al. DNA methylation profiles in monozygotic and dizygotic twins. Nat Genet 2009: 41: 240-245.
5. Panas M, Karadima G, Markianos M, Kalfakis N, Vassilopoulos D. Phenotypic discordance in a pair of monozygotic twins with Huntington's disease. Clin Genet 2008: 74: 291-292.
6. Anderson JH, Christova PS, Xie TD, Schott KS, Ward K, Gomez KM. Spinocerebellar ataxia in monozygotic twins. Arch Neurol 2002: 59: 1945-1951.
7. Machin GA. Some causes of genotypic and phenotypic discordance in monozygotic twin pairs. Am J Med Genet 1996: 61: 216-228.
8. Bruder CE, Piotrowski A, Gijsbers AA et al. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 2008: 82: 763-771.
9. Maiti S, Kumar KH, Castellani CA, O'Reilly R, Singh SM. Ontogenetic de novo copy number variations (CNVs) as a source of genetic individuality: studies on two families with MZD twins for schizophrenia. PLoS One 2011: 6: e17125.
10. Bernheim A, Toujani S, Guillaud-Bataille M et al. Intragenic breakpoints localized by array CGH in a t(2;6) familial translocation. Cytogenet Genome Res 2007: 119: 185-190.
11. Scheil HG, Huckenbeck W. How many markers or how many alleles per system are appropriate in zygosity testing? Coll Antropol 2000: 24: 309-313.
12. Carelle-Calmels N, Saugier-Veber P, Girard-Lemaire F et al. Genetic compensation in a human genomic disorder. N Engl J Med 2009: 360: 1211-1216.
13. Stevens SJ, van Ravenswaaij-Arts CM, Janssen JW et al. MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions. Am J Med Genet A 2011: 155A: 2739-2745.
14. Lee Y, Mattai A, Long R et al. Microduplications disrupting the MYT1L gene (2p25.3) are associated with schizophrenia. Psychiatr Genet 2012: 22: 206-209.
15. Meyer KJ, Axelsen MS, Sheffield VC, Patil SR, Wassink TH. Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism. Psychiatr Genet 2012: 22: 137-140.
16. Yamakawa H, Oyama S, Mitsuhashi H et al. Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations. Biochem Biophys Res Commun 2007: 355: 41-46.
17. 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.
18. Chih B, Afridi SK, Clark L, Scheiffele P. Disorder-associated mutations lead to functional inactivation of neuroligins. Hum Mol Genet 2004: 13: 1471-1477.
19. Comoletti D, Grishaev A, Whitten AE, Taylor P, Trewhella J. Characterization of the solution structure of a neuroligin/beta-neurexin complex. Chem Biol Interact 2008: 175: 150-155.
20. Laumonnier F, Bonnet-Brilhault F, Gomot M et al. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet 2004: 74: 552-557.
21. Yan J, Oliveira G, Coutinho A et al. Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients. Mol Psychiatry 2005: 10: 329-332.
22. Rosenfeld JA, Ballif BC, Torchia BS et al. Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Genet Med Official J Am Coll Med Genet 2010: 12: 694-702.
23. Willer CJ, Speliotes EK, Loos RJ et al. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet 2009: 41: 25-34.
24. Almen MS, Jacobsson JA, Shaik JH et al. The obesity gene, TMEM18, is of ancient origin, found in majority of neuronal cells in all major brain regions and associated with obesity in severely obese children. BMC Med Genet 2010: 11: 58.
25. Yurov YB, Vorsanova SG, Iourov IY et al. Unexplained autism is frequently associated with low-level mosaic aneuploidy. J Med Genet 2007: 44: 521-525.
26. Duchon A, Besson V, Pereira PL, Magnol L, Hérault Y. Inducing segmental aneuploid mosaicism in the mouse through targeted asymmetric sister chromatid event of recombination. Genetics 2008: 180: 51-59.
27. Cooper GM, Coe BP, Girirajan S et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011: 43: 838-846.
28. Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH et al. Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet 2009: 52: 77-87.