Clinical findings in patients with GLI2 mutations – phenotypic variability
Article first published online: 19 JAN 2011
© 2011 John Wiley & Sons A/S
Volume 81, Issue 1, pages 70–75, January 2012
How to Cite
Bertolacini, C., Ribeiro-Bicudo, L., Petrin, A., Richieri-Costa, A. and Murray, J. (2012), Clinical findings in patients with GLI2 mutations – phenotypic variability. Clinical Genetics, 81: 70–75. doi: 10.1111/j.1399-0004.2010.01606.x
- Issue published online: 12 DEC 2011
- Article first published online: 19 JAN 2011
- Accepted manuscript online: 6 DEC 2010 08:10AM EST
- Received 24 September 2010, revised and accepted for publication 30 November 2010
- branchial arch anomalies;
- cleft lip and palate;
- SHH signaling pathway;
- temporomandibular joint
Bertolacini CDP, Ribeiro-Bicudo LA, Petrin A, Richieri-Costa A, Murray JC. Clinical findings in patients with GLI2 mutations – phenotypic variability.
Mutations in the human GLI2 gene were first reported in association with defective anterior pituitary formation, panhypopituitarism, and forebrain anomalies represented by typical holoprosencephaly (HPE) and holoprosencephaly-like (HPE-L) phenotypes and postaxial polydactyly. Subsequently, anophthalmia plus orbital anomalies, heminasal aplasia, branchial arch anomalies and polydactyly have also been incorporated into the general phenotype. Here we described six Brazilian patients with phenotypic manifestations that range from isolated cleft lip/palate with polydactyly, branchial arch anomalies to semi-lobar holoprosencephaly. Novel sequence variants were found in the GLI2 gene in patients with marked involvement of the temporomandibular joint (TMJ), a new clinical finding observed with mutations of this gene. Clinical, molecular and genetic aspects are discussed.