Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly

Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly

Author Jehee, F. S. Google Scholar
Johnson, D. Google Scholar
Alonso, L. G. Google Scholar
Cavalcanti, D. P. Google Scholar
Moreira, E. D. Google Scholar
Alberto, F. L. Google Scholar
Kok, F. Google Scholar
Kim, C. Google Scholar
Wall, S. A. Google Scholar
Jabs, E. W. Google Scholar
Boyadjiev, S. A. Google Scholar
Wilkie, AOM Google Scholar
Passos-Bueno, M. R. Google Scholar
Institution Universidade de São Paulo (USP)
John Radcliffe Hosp
Universidade Federal de São Paulo (UNIFESP)
Universidade Estadual de Campinas (UNICAMP)
Fleury Res Inst
Johns Hopkins Univ
Abstract Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. To contribute to a better understanding of the genetic basis of metopic synostosis and in an attempt to restrict the candidate regions related to metopic suture fusion, we studied 76 unrelated patients with syndromic and non-syndromic trigonocephaly. We found a larger proportion of syndromic cases in our population and the ratio of affected male to female was 1.8 : 1 and 5 : 1 in the non-syndromic and syndromic groups, respectively. A microdeletion screening at 9p22-p24 and 11q23-q24 was carried out for all patients and deletions in seven of them were detected, corresponding to 19.4% of all syndromic cases. Deletions were not found in non-syndromic patients. We suggest that a molecular screening for microdeletions at 9p22-p24 and 11q23-q24 should be offered to all syndromic cases with an apparently normal karyotype because it can potentially elucidate the cause of trigonocephaly in this subset of patients. We also suggest that genes on the X-chromosome play a major role in syndromic trigonocephaly.
Keywords craniosynostosis
deletion 11q
deletion 9p
metopic suture
Language English
Date 2005-06-01
Published in Clinical Genetics. Frederiksberg C: Blackwell Munksgaard, v. 67, n. 6, p. 503-510, 2005.
ISSN 0009-9163 (Sherpa/Romeo, impact factor)
Publisher Blackwell Munksgaard
Extent 503-510
Access rights Closed access
Type Article
Web of Science ID WOS:000228720500010

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