Clinical findings in patients with GLI2 mutations--phenotypic variability

Clin Genet. 2012 Jan;81(1):70-5. doi: 10.1111/j.1399-0004.2010.01606.x. Epub 2011 Jan 19.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions
  • Adult
  • Branchial Region / abnormalities
  • Brazil / epidemiology
  • Child, Preschool
  • Cleft Lip / epidemiology
  • Cleft Lip / genetics
  • Craniofacial Abnormalities / genetics
  • DNA Mutational Analysis
  • Female
  • Genetic Association Studies*
  • Genome, Human
  • Genomic Structural Variation
  • Holoprosencephaly / epidemiology
  • Holoprosencephaly / genetics
  • Humans
  • Infant
  • Kruppel-Like Transcription Factors / genetics*
  • Male
  • Mutation*
  • Nuclear Proteins / genetics*
  • Phenotype
  • Polydactyly / epidemiology
  • Polydactyly / genetics*
  • Temporomandibular Joint / abnormalities
  • Zinc Finger Protein Gli2


  • 3' Untranslated Regions
  • GLI2 protein, human
  • Kruppel-Like Transcription Factors
  • Nuclear Proteins
  • Zinc Finger Protein Gli2