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

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Author

  • Mette Gilling
  • Allan Lind-Thomsen
  • Yuan Mang
  • Mads Bak
  • Morten Moller
  • Reinhard Ullmann
  • Ulf Kristoffersson
  • Vera M. Kalscheuer
  • Karen Friis Henriksen
  • Merete Bugge
  • Zeynep Tumer
  • Niels Tommerup
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Summary, in English

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.

Publishing year

2011

Language

English

Pages

383-388

Publication/Series

European Journal of Medical Genetics

Volume

54

Issue

4

Document type

Journal article

Publisher

Elsevier

Topic

  • Medical Genetics

Keywords

  • Mental retardation
  • Translocation
  • Inversion
  • Deletion
  • Duplication
  • Biparental inheritance

Status

Published

ISBN/ISSN/Other

  • ISSN: 1769-7212