Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3

Hurst, Jane A; Jenkins, Dagan; Vasudevan, Pradeep C; Kirchhoff, Maria; Skovby, Flemming; Rieubland, Claudine; Gallati, Sabina; Rittinger, Olaf; Kroisel, Peter M; Johnson, David; Biesecker, Leslie G; Wilkie, Andrew O M (2011). Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. European journal of human genetics, 19(7), pp. 757-62. Houndmills, UK: Nature Publishing Group 10.1038/ejhg.2011.13

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Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital malformation characterised by limb and craniofacial anomalies, caused by heterozygous mutation or deletion of GLI3. We report four boys and a girl who were presented with trigonocephaly due to metopic synostosis, in association with pre- and post-axial polydactyly and cutaneous syndactyly of hands and feet. Two cases had additional sagittal synostosis. None had a family history of similar features. In all five children, the diagnosis of GCPS was confirmed by molecular analysis of GLI3 (two had intragenic mutations and three had complete gene deletions detected on array comparative genomic hybridisation), thus highlighting the importance of trigonocephaly or overt metopic or sagittal synostosis as a distinct presenting feature of GCPS. These observations confirm and extend a recently proposed association of intragenic GLI3 mutations with metopic synostosis; moreover, the three individuals with complete deletion of GLI3 were previously considered to have Carpenter syndrome, highlighting an important source of diagnostic confusion.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Rieubland, Claudine and Gallati, Sabina

ISSN:

1018-4813

Publisher:

Nature Publishing Group

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:24

Last Modified:

17 Mar 2015 21:04

Publisher DOI:

10.1038/ejhg.2011.13

PubMed ID:

21326280

Web of Science ID:

000291678400009

URI:

https://boris.unibe.ch/id/eprint/8345 (FactScience: 213871)

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