Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

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

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Hurst, JA, Jenkins, D, Vasudevan, PC, Kirchhoff, EM, Skovby, F, Rieubland, C, Gallati, S, Rittinger, O, Kroisel, PM, Johnson, D, Biesecker, LG & Wilkie, AOM 2011, 'Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3' European Journal of Human Genetics, vol. 19, no. 7, pp. 757-62. https://doi.org/10.1038/ejhg.2011.13

APA

CBE

MLA

Vancouver

Author

Hurst, Jane A ; Jenkins, Dagan ; Vasudevan, Pradeep C ; Kirchhoff, Eva Maria ; Skovby, Flemming ; Rieubland, Claudine ; Gallati, Sabina ; Rittinger, Olaf ; Kroisel, Peter M ; Johnson, David ; Biesecker, Leslie G ; Wilkie, Andrew O M. / Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. In: European Journal of Human Genetics. 2011 ; Vol. 19, No. 7. pp. 757-62.

Bibtex

@article{f5f1fec17ea64d88b093f9de1f19d210,
title = "Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3",
abstract = "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.",
keywords = "Acrocephalosyndactylia, Adolescent, Child, Child, Preschool, Craniosynostoses, Female, Heterozygote, Humans, Infant, Infant, Newborn, Kruppel-Like Transcription Factors, Male, Mutation, Nerve Tissue Proteins, Phenotype",
author = "Hurst, {Jane A} and Dagan Jenkins and Vasudevan, {Pradeep C} and Kirchhoff, {Eva Maria} and Flemming Skovby and Claudine Rieubland and Sabina Gallati and Olaf Rittinger and Kroisel, {Peter M} and David Johnson and Biesecker, {Leslie G} and Wilkie, {Andrew O M}",
year = "2011",
doi = "10.1038/ejhg.2011.13",
language = "English",
volume = "19",
pages = "757--62",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "7",

}

RIS

TY - JOUR

T1 - Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3

AU - Hurst, Jane A

AU - Jenkins, Dagan

AU - Vasudevan, Pradeep C

AU - Kirchhoff, Eva Maria

AU - Skovby, Flemming

AU - Rieubland, Claudine

AU - Gallati, Sabina

AU - Rittinger, Olaf

AU - Kroisel, Peter M

AU - Johnson, David

AU - Biesecker, Leslie G

AU - Wilkie, Andrew O M

PY - 2011

Y1 - 2011

N2 - 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.

AB - 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.

KW - Acrocephalosyndactylia

KW - Adolescent

KW - Child

KW - Child, Preschool

KW - Craniosynostoses

KW - Female

KW - Heterozygote

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Kruppel-Like Transcription Factors

KW - Male

KW - Mutation

KW - Nerve Tissue Proteins

KW - Phenotype

U2 - 10.1038/ejhg.2011.13

DO - 10.1038/ejhg.2011.13

M3 - Journal article

VL - 19

SP - 757

EP - 762

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 7

ER -

ID: 33280061