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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
The identification of human Sonic Hedgehog (SHH) as HPE3 — the first known gene to cause HPE is reported, and five families that segregate different heterozygous SHH mutations are found that predict premature termination of the SHH protein.
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.
Future studies will focus both on the identification of additional genes involved with these human diseases and on the understanding of their biologic interactions, which will lend greater insight into the complex genetic and environmental influences that lead to phenotypic expression of a trait.
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
The sonic hedgehog (SHH) gene is identified as the prime candidate for HPE, suggesting that a ‘position effect’ has an important role in the aetiology of HPE.
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features
- E. Roessler, Yangzhu Du, M. Muenke
- BiologyProceedings of the National Academy of Sciences…
- 27 October 2003
It is shown that loss-of-function mutations in the human GLI2 gene are associated with a distinctive phenotype whose primary features include defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and HPE-like midfacial hypoplasia, and it is demonstrated that these mutations lackGLI2 activity.
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
61 individuals from 20 unrelated families where coronal synostosis is due to an amino acid substitution (Pro250Arg) that results from a single point mutation in the fibroblast growth factor receptor 3 gene on chromosome 4p are presented.
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination
TGIF links the NODAL signalling pathway to the bifurcation of the human forebrain and the establishment of ventral midline structures, and is mapped to the HPE minimal critical region in 18p11.3.
Fibroblast-growth-factor receptor mutations in human skeletal disorders.
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
It is suggested that the interactions of multiple gene products and/or environmental elements may determine the final phenotypic outcome for a given individual and that variations among these factors may cause the wide variability in the clinical features seen in HPE.
Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients
- C. Schell-Apacik, K. Wagner, H. von Voss
- Medicine, BiologyAmerican Journal of Medical Genetics. Part A
- 1 October 2008
In this series of cases a variety of genetic causes of disorders of the corpus callosum were identified with cytogenetic anomalies representing the most common underlying etiology.
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
A recurrent single point mutation in the FGFR3 gene, located on chromosome 4p, is reported in ten unrelated families with craniosynostosis syndromes.