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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Clinical findings in patients with GLI2 mutations - phenotypic variability

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Author(s):
Bertolacini, C. D. P. [1] ; Ribeiro-Bicudo, L. A. [1] ; Petrin, A. [2] ; Richieri-Costa, A. [1] ; Murray, J. C. [2]
Total Authors: 5
Affiliation:
[1] USP, Hosp Rehabil Craniofacial Anomalies, Bauru, SP - Brazil
[2] Univ Iowa, Dept Pediat, Iowa City, IA 52242 - USA
Total Affiliations: 2
Document type: Journal article
Source: Clinical Genetics; v. 81, n. 1, p. 70-75, JAN 2012.
Web of Science Citations: 28
Abstract

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. (AU)