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

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 ma...

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Bibliographic Details
Published in:Molecular vision 2010-04, Vol.16, p.582-585
Main Authors: Chograni, Manèl, Chaabouni, Myriam, Chelly, Imen, Helayem, Mohamed Bechir, Chaabouni-Bouhamed, Habiba
Format: Article
Language:English
Subjects:
Adolescent
Adult
Brain
Cataract - complications
Cataract - congenital
Cataract - genetics
Cataracts
Child
Child, Preschool
Development
Embryogenesis
Exons
Eye
Family
Female
Homeobox
Homeodomain Proteins - genetics
Humans
Intellectual Disability - complications
Intellectual Disability - genetics
Male
Mental retardation
Mesenchyme
Mutation
Mutation - genetics
Pedigree
Pituitary
pitx3 gene
Transcription factors
Transcription Factors - genetics
Tunisia
Vision
Young Adult
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Summary: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. 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. 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. 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.
ISSN:1090-0535
1090-0535