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Related Experiment Video

Updated: Jun 5, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Clinical findings in patients with GLI2 mutations--phenotypic variability.

C D P Bertolacini1, L A Ribeiro-Bicudo, A Petrin

  • 1Hospital of Rehabilitation of Craniofacial Anomalies, USP, Bauru, SP, Brazil.

Clinical Genetics
|January 6, 2011
PubMed
Summary
This summary is machine-generated.

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Mutations in the GLI2 gene cause developmental disorders affecting the pituitary and forebrain, including holoprosencephaly (HPE). This study identifies new GLI2 variants in Brazilian patients, revealing temporomandibular joint (TMJ) involvement as a novel phenotype.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Mutations in the human GLI2 gene are linked to pituitary and forebrain developmental defects, including holoprosencephaly (HPE) and related phenotypes.
  • The GLI2 gene plays a critical role in embryonic development, influencing craniofacial and pituitary formation.

Purpose of the Study:

  • To investigate the genetic basis of developmental anomalies in six Brazilian patients.
  • To identify novel sequence variants in the GLI2 gene and characterize the associated clinical phenotypes.
  • To explore the spectrum of GLI2-associated disorders, including previously unreported features.

Main Methods:

  • Clinical evaluation of six Brazilian patients presenting with a range of developmental anomalies.
  • Genetic analysis, including sequencing of the GLI2 gene, to identify causative variants.

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  • Phenotypic characterization, correlating genetic findings with clinical manifestations.

    • Main Results:

    • Identification of novel sequence variants in the GLI2 gene in the studied patients.
    • Observed phenotypic spectrum ranging from isolated cleft lip/palate with polydactyly and branchial arch anomalies to semi-lobar holoprosencephaly.
    • Discovery of significant temporomandibular joint (TMJ) involvement in patients with GLI2 mutations, representing a new clinical finding.

    Conclusions:

    • GLI2 gene mutations are associated with a broader spectrum of developmental abnormalities than previously recognized.
    • Temporomandibular joint (TMJ) anomalies should be considered in the clinical evaluation of patients with GLI2 gene mutations.
    • Further research is warranted to fully elucidate the genotype-phenotype correlations and clinical implications of GLI2 variants.