Clinical findings in patients with GLI2 mutations – phenotypic variability

Claudia Danielli Pereira Bertolacini; Lucilene Arilho Ribeiro-Bicudo; Aline da Silva Petrin; Antonio Richieri-Costa; Jeffrey C Murray

doi:10.1111/j.1399-0004.2010.01606.x

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Clinical findings in patients with GLI2 mutations – phenotypic variability

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Clinical findings in patients with GLI2 mutations – phenotypic variability

Claudia Danielli Pereira Bertolacini, Lucilene Arilho Ribeiro-Bicudo, Aline da Silva Petrin, Antonio Richieri-Costa and Jeffrey C Murray

Clinical genetics, Vol.81(1), pp.70-75

01/2012

DOI: 10.1111/j.1399-0004.2010.01606.x

PMCID: PMC3135662

PMID: 21204792

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Abstract

Mutations in the human GLI2 gene were first reported in association with defective anterior pituitary formation, pan-hypopituitarism, and forebrain anomalies represented by typical holoprosencephaly (HPE) and holoprosencephaly-like (HPE-L) phenotypes and postaxial polydactyly. Subsequent, 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.

HPE-L

branchial arch anomalies

cleft lip and palate

temporomandibular joint

SHH signaling pathway

HPE

polydactyly

GLI2

Details

Title: Subtitle: Clinical findings in patients with GLI2 mutations – phenotypic variability
Creators: Claudia Danielli Pereira Bertolacini - Hospital of Rehabilitation of Craniofacial Anomalies, USP, Bauru SP, Brazil
Lucilene Arilho Ribeiro-Bicudo - Hospital of Rehabilitation of Craniofacial Anomalies, USP, Bauru SP, Brazil
Aline da Silva Petrin - Department of Pediatrics, University of Iowa, Iowa City, IA, USA
Antonio Richieri-Costa - Hospital of Rehabilitation of Craniofacial Anomalies, USP, Bauru SP, Brazil
Jeffrey C Murray - Department of Pediatrics, University of Iowa, Iowa City, IA, USA
Resource Type: Journal article
Publication Details: Clinical genetics, Vol.81(1), pp.70-75
DOI: 10.1111/j.1399-0004.2010.01606.x
PMID: 21204792
PMCID: PMC3135662
NLM abbreviation: Clin Genet
ISSN: 0009-9163
eISSN: 1399-0004
Language: English
Date published: 01/2012
Academic Unit: Orthodontics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984025470002771

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