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  Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

Gilling, M., Lind-Thomsen, A., Mang, Y., Bak, M., Moller, M., Ullmann, R., et al. (2011). Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation. Eur J Med Genet, 54(4), e383-8. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=21426945 http://pdn.sciencedirect.com/science?_ob=MiamiImageURL&_cid=273314&_user=28761&_pii=S1769721211000413&_check=y&_origin=article&_zone=toolbar&_coverDate=31-Aug-2011&view=c&originContentFamily=serial&wchp=dGLbVlS-zSkWA&md5=c41331b520eb428e0cf69aab8f5e9744/1-s2.0-S1769721211000413-main.pdf.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7947-A Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7948-8
Genre: Journal Article

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 Creators:
Gilling, M., Author
Lind-Thomsen, A., Author
Mang, Y., Author
Bak, M., Author
Moller, M., Author
Ullmann, R.1, Author              
Kristoffersson, U., Author
Kalscheuer, V. M.2, Author              
Henriksen, K. F., Author
Bugge, M., Author
Tumer, Z., Author
Tommerup, N., Author
Affiliations:
1Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
2Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Free keywords: Animals; Child; *Chromosome Aberrations; Chromosome Breakpoints; Chromosome Deletion; Chromosome Duplication; Chromosomes, Human, Pair 18/*genetics; Chromosomes, Human, Pair 5/*genetics; Chromosomes, Human, Pair 8/*genetics; Chromosomes, Human, Pair 9/*genetics; Exons/genetics; Gene Expression Regulation; Humans; In Situ Hybridization, Fluorescence; Intellectual Disability/*genetics; Male; Mice; Mice, Inbred C57BL; Molecular Sequence Data; Phenotype; Protein Interaction Mapping; Proteins/genetics; RNA, Messenger/genetics; Translocation, Genetic; Twins, Monozygotic/*genetics
 Abstract: In a monozygotic twin couple with mental retardation (MR), we identified a maternally inherited inversion and a paternally inherited translocation: 46,XY,inv(10)(p11.2q21.2)mat,t(9;18)(p22;q21.1)pat. The maternally inherited inv(10) was a benign variant without any apparent phenotypical implications. The translocation breakpoint at 9p was within a cluster of interferon alpha genes and the 18q21 breakpoint truncated ZBTB7C (zinc finger and BTB containing 7C gene). In addition, analyses with array-CGH revealed a 931 kb maternally inherited deletion on chromosome 8q22 as well as an 875 kb maternally inherited duplication on 5p14. The deletion encompasses the RIM2 (Rab3A-interacting molecule 2), FZD6 (Frizzled homolog 6) and BAALC (Brain and Acute Leukemia Gene, Cytoplasmic) genes and the duplication includes the 5' end of the CDH9 (cadherin 9) gene. Exome sequencing did not reveal any additional mutations that could explain the MR phenotype. The protein products of the above mentioned genes are involved in different aspects of brain development and/or maintenance of the neurons which suggest that accumulation of genetic defects segregating from both parents might be the basis of MR in the twins. This hypothesis was further supported by protein interaction analysis.

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Title: Eur J Med Genet
Source Genre: Journal
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Pages: - Volume / Issue: 54 (4) Sequence Number: - Start / End Page: e383 - 8 Identifier: ISSN: 1878-0849 (Electronic) 1769-7212 (Linking)