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.
Copyright 2003 Wiley-Liss, Inc.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Craniofacial Abnormalities / diagnostic imaging
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Craniofacial Abnormalities / genetics
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DNA Mutational Analysis
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DNA-Binding Proteins / genetics*
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Facies
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Family Health
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Female
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Genes, Dominant
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Genetic Markers
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Heterozygote
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Humans
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In Situ Hybridization, Fluorescence
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Kruppel-Like Transcription Factors
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Limb Deformities, Congenital / diagnostic imaging
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Limb Deformities, Congenital / genetics
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Male
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Mutation*
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Mutation, Missense
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Nerve Tissue Proteins*
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Pedigree
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Penetrance
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Phenotype
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Polydactyly / diagnostic imaging
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Polydactyly / genetics
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Polymorphism, Single-Stranded Conformational
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Radiography
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Syndactyly / diagnostic imaging
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Syndactyly / genetics
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Syndrome
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Transcription Factors / genetics*
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Zinc Finger Protein Gli3
Substances
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DNA-Binding Proteins
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GLI3 protein, human
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Genetic Markers
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Gli3 protein, mouse
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Kruppel-Like Transcription Factors
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Nerve Tissue Proteins
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Transcription Factors
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Zinc Finger Protein Gli3