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Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation

Osoegawa, K. ; Vessere, G. M. ; Utami, K. H. ; Mansilla, M. A. ; Johnson, M. K. ; Riley, B. M. ; L'Heureux, J. ; Pfundt, R. ; Staaf, Johan LU orcid and van der Vliet, W. A. , et al. (2008) In Journal of Medical Genetics 45(2). p.81-86
Abstract
Aim and method: We analysed DNA samples isolated from individuals born with cleft lip and cleft palate to identify deletions and duplications of candidate gene loci using array comparative genomic hybridisation (array-CGH). Results: Of 83 syndromic cases analysed we identified one subject with a previously unknown 2.7 Mb deletion at 22q11.21 coinciding with the DiGeorge syndrome region. Eighteen of the syndromic cases had clinical features of Van der Woude syndrome and deletions were identified in five of these, all of which encompassed the interferon regulatory factor 6 (IRF6) gene. In a series of 104 non-syndromic cases we found one subject with a 3.2 Mb deletion at chromosome 6q25.1-25.2 and another with a 2.2 Mb deletion at... (More)
Aim and method: We analysed DNA samples isolated from individuals born with cleft lip and cleft palate to identify deletions and duplications of candidate gene loci using array comparative genomic hybridisation (array-CGH). Results: Of 83 syndromic cases analysed we identified one subject with a previously unknown 2.7 Mb deletion at 22q11.21 coinciding with the DiGeorge syndrome region. Eighteen of the syndromic cases had clinical features of Van der Woude syndrome and deletions were identified in five of these, all of which encompassed the interferon regulatory factor 6 (IRF6) gene. In a series of 104 non-syndromic cases we found one subject with a 3.2 Mb deletion at chromosome 6q25.1-25.2 and another with a 2.2 Mb deletion at 10q26.11-26.13. Analyses of parental DNA demonstrated that the two deletion cases at 22q11.21 and 6q25.1-25.2 were de novo, while the deletion of 10q26.11-26.13 was inherited from the mother, who also has a cleft lip. These deletions appear likely to be causally associated with the phenotypes of the subjects. Estrogen receptor 1 (ESR1) and fibroblast growth factor receptor 2 (FGFR2) genes from the 6q25.1-25.2 and 10q26.11-26.13, respectively, were identified as likely causative genes using a gene prioritisation software. Conclusion: We have shown that array-CGH analysis of DNA samples derived from cleft lip and palate subjects is an efficient and productive method for identifying candidate chromosomal loci and genes, complementing traditional genetic mapping strategies. (Less)
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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Journal of Medical Genetics
volume
45
issue
2
pages
81 - 86
publisher
BMJ Publishing Group
external identifiers
  • wos:000252871300003
  • scopus:39149129958
  • pmid:17873121
ISSN
0022-2593
DOI
10.1136/jmg.2007.052191
language
English
LU publication?
yes
id
49e50836-7102-40b6-810a-c2b8b42998fd (old id 1198606)
date added to LUP
2016-04-01 13:54:52
date last changed
2022-02-04 18:07:14
@article{49e50836-7102-40b6-810a-c2b8b42998fd,
  abstract     = {{Aim and method: We analysed DNA samples isolated from individuals born with cleft lip and cleft palate to identify deletions and duplications of candidate gene loci using array comparative genomic hybridisation (array-CGH). Results: Of 83 syndromic cases analysed we identified one subject with a previously unknown 2.7 Mb deletion at 22q11.21 coinciding with the DiGeorge syndrome region. Eighteen of the syndromic cases had clinical features of Van der Woude syndrome and deletions were identified in five of these, all of which encompassed the interferon regulatory factor 6 (IRF6) gene. In a series of 104 non-syndromic cases we found one subject with a 3.2 Mb deletion at chromosome 6q25.1-25.2 and another with a 2.2 Mb deletion at 10q26.11-26.13. Analyses of parental DNA demonstrated that the two deletion cases at 22q11.21 and 6q25.1-25.2 were de novo, while the deletion of 10q26.11-26.13 was inherited from the mother, who also has a cleft lip. These deletions appear likely to be causally associated with the phenotypes of the subjects. Estrogen receptor 1 (ESR1) and fibroblast growth factor receptor 2 (FGFR2) genes from the 6q25.1-25.2 and 10q26.11-26.13, respectively, were identified as likely causative genes using a gene prioritisation software. Conclusion: We have shown that array-CGH analysis of DNA samples derived from cleft lip and palate subjects is an efficient and productive method for identifying candidate chromosomal loci and genes, complementing traditional genetic mapping strategies.}},
  author       = {{Osoegawa, K. and Vessere, G. M. and Utami, K. H. and Mansilla, M. A. and Johnson, M. K. and Riley, B. M. and L'Heureux, J. and Pfundt, R. and Staaf, Johan and van der Vliet, W. A. and Lidral, A. C. and Schoenmakers, E. F. P. M. and Borg, A. and Schutte, B. C. and Lammer, E. J. and Murray, J. C. and De Jong, P. J.}},
  issn         = {{0022-2593}},
  language     = {{eng}},
  number       = {{2}},
  pages        = {{81--86}},
  publisher    = {{BMJ Publishing Group}},
  series       = {{Journal of Medical Genetics}},
  title        = {{Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation}},
  url          = {{http://dx.doi.org/10.1136/jmg.2007.052191}},
  doi          = {{10.1136/jmg.2007.052191}},
  volume       = {{45}},
  year         = {{2008}},
}