Journal article
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
JJ Johnston, JC Sapp, JT Turner, D Amor, S Aftimos, KA Aleck, M Bocian, JN Bodurtha, GF Cox, CJ Curry, R Day, D Donnai, M Field, I Fujiwara, M Gabbett, M Gal, JM Graham, P Hedera, RCM Hennekam, JH Hersh Show all
Human Mutation | WILEY-BLACKWELL | Published : 2010
DOI: 10.1002/humu.21328
Abstract
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial-digital sy..
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Awarded by National Human Genome Research Institute
Funding Acknowledgements
The authors thank the following genetic professionals for referring patients to our study: William P. Allen, David J. Aughton, Christopher Cunniff, Sally Davies, William B. Dobyns, Linda Genen, Daniel Gruskin, Ketil Heimdal, Gail Herman, Jodi Hoffman, Helen Hughes, LaDonna Immken, Jeffrey Innis, Ian Krantz, David Manchester, Elizabeth McPherson, Thomas Morgan, Maximilian Muenke, Tracy Oh, Melissa Parisi, Betsy Peach, Lynda Pollack, Nazneen Rahman, Miranda Splitt and LuAnn Weik. Grant sponsors: SHARE's Childhood Disability Center, the Steven Spielberg Pediatric Research Center, the NIH/NICHD Program Project Grant; grant number: HD22657; the Medical Genetics NIH/NIGMS Training Program Grant; grant number: 5-T32-GM08243 (all to J. M. G). Grant sponsor: funding from the Intramural Research Program of the National Human Genome Research Institute of the National Institutes of Health. We also acknowledge the Manchester NIHR Biomedical research Centre. Disclaimer: The opinions and assertions contained herein are the views of the authors and are not to be construed as official or as reflecting the views of the United States Department of Defense.