A new mutation in the six-domain of SIX3 gene causes holoprosencephaly

European Journal of Human Genetics

Volumn 8, Issue 10, 2000, Pages 797-800

  Pasquier, L ^a   Dubourg, C ^a   Blayau, M ^a   Lazaro, L ^a   Le Marec, B ^a   David, V ^a   Odent, S ^a  

^a PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

Author keywords

Cyclopia; Holoprosencephaly; SIX family; SIX3

Indexed keywords

HOMEODOMAIN PROTEIN;

ARTICLE; BRAIN DEVELOPMENT; BRAIN MALFORMATION; CHROMOSOME 2P; CLINICAL FEATURE; CYCLOPIA; DNA FLANKING REGION; DROSOPHILA; EMBRYO DEVELOPMENT; FEMALE; FOREBRAIN; FRAMESHIFT MUTATION; GENE INSERTION; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HOLOPROSENCEPHALY; HOMEOBOX; HUMAN; HYPERTELORISM; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; PATHOGENESIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

CHROMOSOMES, HUMAN, PAIR 2; CODON, NONSENSE; DNA PRIMERS; EYE PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENES, HOMEOBOX; HOLOPROSENCEPHALY; HOMEODOMAIN PROTEINS; HUMANS; MALE; NERVE TISSUE PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

CYCLOPIA;

EID: 0033773030     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200540     Document Type: Article

References (13)

1. Segregation analysis in nonsyndromic holoprosencephaly
2. Holoprosencephaly: A paradigm for the complex genetics of brain development
3. Molecular mechanisms of holoprosencephaly
4. Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene
5. Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophtalmia and pituitary anomalies
6. SIX3, a murine homologue of the sine oculis gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development
7. Sequence and location of SIX3, a homeobox gene expressed in the human eye
8. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
9. Expression of the Sonic Hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly
10. Heteroduplex analysis of the dystrophin gene: Application to point mutation and carrier detection
11. The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly
12. Clinical and molecular study of 56 nonchromosomal unrelated holoprosencephaly cases
13. Holoprosencephaly: Molecular study of a California population