Overview
Gene (OMIM No.) |
|
Function of gene/protein |
|
Clinical phenotype (OMIM phenotype no.) | |
Inheritance |
|
Ocular features |
|
Systemic features | Holoprosencephaly 9:
|
Key investigations |
|
Molecular diagnosis | Next generation sequencing
|
Management | OcularSystemic
|
Therapies under research |
|
Further information |
Additional information
Heterozygous GLI2 mutations can manifest as holoprosencephaly 9 with variable expressivity and incomplete penetrance within and between families. This means that some mutation carriers are unaffected, some may be less affected while a small minority display the full disease phenotype. It is estimated that about one-third of obligate carriers of autosomal dominant holoprosencephaly are asymptomatic with normal cognitive function.[5]
References
- Bertolacini CD, Ribeiro-Bicudo LA, Petrin A, Richieri-Costa A, Murray JC. Clinical findings in patients with GLI2 mutations–phenotypic variability. Clin Genet. 2012;81(1):70‐75
- Roessler E, Du YZ, Mullor JL, et al. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci. 2003;100(23):13424‐13429
- Varjosalo M, Björklund M, Cheng F, et al. Application of active and kinase-deficient kinome collection for identification of kinases regulating hedgehog signaling. Cell. 2008;133(3):537‐548
- Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC. GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?. Am J Med Genet A. 2006;140(23):2571‐2576
- Ming JE, Kaupas ME, Roessler E, et al. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly [published correction appears in Hum Genet 2002 Oct;111(4-5):464]. Hum Genet. 2002;110(4):297‐301