Cargando…

Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation

PURPOSE: The PITX3 (pituitary homeobox 3) gene encodes for a homeobox bicoid-like transcription factor. When one allele is mutated, it leads to dominant cataract and anterior segment mesenchymal dysgenesis in humans. When both copies are mutated, homozygous mutation contributes to microphtalmia with...

Descripción completa

Detalles Bibliográficos
Autores principales: Chograni, Manèl, Chaabouni, Myriam, Chelly, Imen, Helayem, Mohamed Bechir, Chaabouni-Bouhamed, Habiba
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2848917/
https://www.ncbi.nlm.nih.gov/pubmed/20376326
Descripción
Sumario:PURPOSE: The PITX3 (pituitary homeobox 3) gene encodes for a homeobox bicoid-like transcription factor. When one allele is mutated, it leads to dominant cataract and anterior segment mesenchymal dysgenesis in humans. When both copies are mutated, homozygous mutation contributes to microphtalmia with brain malformations. In the current study, a family with autosomal recessive congenital cataract (ARCC) associated with mental retardation (MR) was examined to identify PITX3 mutations. METHODS: Sequencing of the PITX3 gene was performed on two affected and three unaffected members of the studied Tunisian family. The results were analyzed with Sequencing Analysis 5.2 and SeqScape. RESULTS: No mutation in the four exons of PITX3 was revealed. Two substitution polymorphisms, c.439C>T and c.930C>A, were detected in exons 3 and 4, respectively. These alterations did not segregate with the disease. CONCLUSIONS: Although PITX3 was shown to be essential to normal embryonic eye and brain development in vertebrates, we report the absence of PITX3 mutations in a family presenting congenital cataract and mental retardation.