Title: Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
Authors: Verdin, Hannah ×
Sorokina, Elena A
Meire, Françoise
Casteels, Ingele
de Ravel de l'Argentière, Thomy
Semina, Elena V
De Baere, Elfride #
Issue Date: Feb-2014
Publisher: BioMed Central
Series Title: Orphanet Journal of Rare Diseases vol:9 issue:1 pages:26-26
Abstract: Congenital cataracts are clinically and genetically heterogeneous with more than 45 known loci and 38 identified genes. They can occur as isolated defects or in association with anterior segment developmental anomalies. One of the disease genes for congenital cataract with or without anterior segment dysgenesis (ASD) is PITX3, encoding a transcription factor with a crucial role in lens and anterior segment development. Only five unique PITX3 mutations have been described, of which the 17-bp duplication c.640_656dup, p.(Gly220Profs*95), is the most common one and the only one known to cause cataract with ASD. The aim of this study was to perform a genetic study of the PITX3 gene in five probands with autosomal dominant congenital cataract (ADCC) and ASD, to compare their clinical presentations to previously reported PITX3-associated phenotypes and to functionally evaluate the PITX3 mutations found.
ISSN: 1750-1172
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

Files in This Item:
File Description Status SizeFormat
Verdin 2014.pdfOA article Published 2751KbAdobe PDFView/Open


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science