Title: Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations
Authors: Debeer, Philippe ×
Peeters, Hilde
Driess, S
De Smet, Luc
Freese, K
Matthijs, Gert
Bornholdt, D
Devriendt, Koenraad
Grzeschik, K-H
Fryns, Jean-Pierre
Kalff-Suske, M #
Issue Date: Jun-2003
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics vol:120 issue:1 pages:49-58
Abstract: Greig cephalopolysyndactyly (GCPS) (OMIM 175700) is an autosomal dominant disorder characterized by a distinct combination of craniofacial, hand and foot malformations. In this report, clinical and radiological findings of 12 patients with GCPS derived from 4 independent families and 3 sporadic cases with documented GLI3 mutations are presented with particular emphasis on inter- and intrafamilial variability. In a particularly instructive family in which 9 members of 4 generations could be studied clinically and molecularly, a missense mutation (R625W) is transmitted and shows a partially penetrant pattern. In a branch of the family, the GCPS phenotype skips a generation via a normal female carrier without clinical signs providing evidence that GCPS does not always manifest full penetrance as generally supposed.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
Orthopaedics Section (-)
Research Group for Musculoskeletal Rehabilitation
Laboratory for Genetics of Human Development
× corresponding author
# (joint) last author

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