Psychiatric disorder and cognitive function in a family with an inherited novel mutation of the developmental control gene PAX6.
Psychiatr Genet
; 9(2): 85-90, 1999 Jun.
Article
em En
| MEDLINE
| ID: mdl-10412187
The PAX family of developmental control genes are known to play important roles in the early patterning of the central nervous system. One member of this family, PAX6, is involved in eye development in invertebrates as well as in mouse and man, but is also widely expressed in the developing forebrain. Humans with a mutation in this gene have abnormalities of eye development, and the results presented here suggest, for the first time, that this mutation may also be associated with subtle abnormalities of frontal lobe function in the family studied. We carried out genotyping of individuals within a single family, with and without the characteristic eye abnormalities of PAX6 mutation, and only those individuals with the mutation showed significant abnormalities on tests of frontal lobe function. These individuals also had higher rates of psychiatric disorder. PAX6 is highly conserved between mouse and man, and although the neuroanatomical phenotype associated with PAX6 heterozygosity has only been studied in mice, the resultant cellular disorganization seen in mice is likely to be present in the human forebrain. Although these mice have no obvious behavioural phenotype, the results presented here suggest that humans with the equivalent mutation display a neurobehavioural phenotype.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Aniridia
/
Cognição
/
Transtornos Cognitivos
/
Proteínas de Homeodomínio
/
Proteínas de Ligação a DNA
/
Transtornos Mentais
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Aged
/
Animals
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Psychiatr Genet
Assunto da revista:
GENETICA
/
PSIQUIATRIA
Ano de publicação:
1999
Tipo de documento:
Article
País de publicação:
Reino Unido