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

DOI

  1. Haploinsufficiency of ARHGAP42 is associated with hypertension

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Correction: Educational delay and attainment in persons with neurofibromatosis 1 in Denmark

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. The Global State of the Genetic Counseling Profession

    Research output: Contribution to journalReviewResearchpeer-review

  1. De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. The impact of consanguinity on the frequency of inborn errors of metabolism

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Jane A Hurst
  • Dagan Jenkins
  • Pradeep C Vasudevan
  • Eva Maria Kirchhoff
  • Flemming Skovby
  • Claudine Rieubland
  • Sabina Gallati
  • Olaf Rittinger
  • Peter M Kroisel
  • David Johnson
  • Leslie G Biesecker
  • Andrew O M Wilkie
View graph of relations
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.
Original languageEnglish
JournalEuropean Journal of Human Genetics
Volume19
Issue number7
Pages (from-to)757-62
Number of pages6
ISSN1018-4813
DOIs
Publication statusPublished - 2011

    Research areas

  • Acrocephalosyndactylia, Adolescent, Child, Child, Preschool, Craniosynostoses, Female, Heterozygote, Humans, Infant, Infant, Newborn, Kruppel-Like Transcription Factors, Male, Mutation, Nerve Tissue Proteins, Phenotype

ID: 33280061