Clinical findings in patients with GLI2 mutations - phenotypic variability

Author(s)

Bertolacini, C. D. P. ^[1] ; Ribeiro-Bicudo, L. A. ^[1] ; Petrin, A. ^[2] ; Richieri-Costa, A. ^[1] ; Murray, J. C. ^[2]

Affiliation

^[1] USP, Hosp Rehabil Craniofacial Anomalies, Bauru, SP - Brazil

^[2] Univ Iowa, Dept Pediat, Iowa City, IA 52242 - USA

• 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)

• FAPESP's process: 03/00165-8 - Investigacao da interacao do gene msx1 nas formas nao-sindromicas das fissuras de labio e/ou palato.
• Grantee: Lucilene Arilho Ribeiro Bicudo
• Support Opportunities: Regular Research Grants
• FAPESP's process: 06/60973-9 - Analise mutacional dos genes shh, tgif, six3, zic2, ptch e gli2 nas anomalias craniofaciais e alteracoes do desenvolvimento do sistema nervoso central.
• Grantee: Lucilene Arilho Ribeiro Bicudo
• Support Opportunities: Regular Research Grants