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

Gilling, Mette; Lind-Thomsen, Allan; Mang, Yuan; Bak, Mads; Moller, Morten; Ullmann, Reinhard; Kristoffersson, Ulf LU ; Kalscheuer, Vera M.; Henriksen, Karen Friis and Bugge, Merete, et al. (2011) In European Journal of Medical Genetics 54(4). p.383-388
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 a 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... (More)
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 a 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. (C) 2011 Elsevier Masson SAS. All rights reserved. (Less)
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keywords
Mental retardation, Translocation, Inversion, Deletion, Duplication, Biparental inheritance
in
European Journal of Medical Genetics
volume
54
issue
4
pages
383 - 388
publisher
Elsevier
external identifiers
  • wos:000293745000002
  • scopus:79960076288
ISSN
1769-7212
DOI
10.1016/j.ejmg.2011.03.008
language
English
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yes
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06c49a32-3a7e-496a-a049-6b5892b9160b (old id 2163017)
date added to LUP
2011-10-03 08:39:12
date last changed
2017-01-01 03:19:41
@article{06c49a32-3a7e-496a-a049-6b5892b9160b,
  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 a 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. (C) 2011 Elsevier Masson SAS. All rights reserved.},
  author       = {Gilling, Mette and Lind-Thomsen, Allan and Mang, Yuan and Bak, Mads and Moller, Morten and Ullmann, Reinhard and Kristoffersson, Ulf and Kalscheuer, Vera M. and Henriksen, Karen Friis and Bugge, Merete and Tumer, Zeynep and Tommerup, Niels},
  issn         = {1769-7212},
  keyword      = {Mental retardation,Translocation,Inversion,Deletion,Duplication,Biparental inheritance},
  language     = {eng},
  number       = {4},
  pages        = {383--388},
  publisher    = {Elsevier},
  series       = {European Journal of Medical Genetics},
  title        = {Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation},
  url          = {http://dx.doi.org/10.1016/j.ejmg.2011.03.008},
  volume       = {54},
  year         = {2011},
}