Journal
CLINICAL GENETICS
Volume 81, Issue 1, Pages 70-75Publisher
WILEY
DOI: 10.1111/j.1399-0004.2010.01606.x
Keywords
branchial arch anomalies; cleft lip and palate; GLI2; HPE; HPE-L; polydactyly; SHH signaling pathway; temporomandibular joint
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Funding
- NIH [R37 DE-08559]
- Fundacao de Amparo a Pesquisa do Estado de Sao Paulo [03/00165-8, 06/60973-9]
- CNPq [307595/2008-0-LAR, 470996/2006-4, 301926/2007-7-AR-C]
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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.
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