Title |
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
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Published in |
Orphanet Journal of Rare Diseases, February 2014
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DOI | 10.1186/1750-1172-9-26 |
Pubmed ID | |
Authors |
Hannah Verdin, Elena A Sorokina, Françoise Meire, Ingele Casteels, Thomy de Ravel, Elena V Semina, Elfride De Baere |
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. |
X Demographics
Geographical breakdown
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Unknown | 2 | 100% |
Demographic breakdown
Type | Count | As % |
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Practitioners (doctors, other healthcare professionals) | 1 | 50% |
Scientists | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United States | 2 | 7% |
Unknown | 26 | 93% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 8 | 29% |
Other | 4 | 14% |
Student > Master | 3 | 11% |
Student > Ph. D. Student | 3 | 11% |
Professor | 2 | 7% |
Other | 3 | 11% |
Unknown | 5 | 18% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 7 | 25% |
Medicine and Dentistry | 7 | 25% |
Agricultural and Biological Sciences | 3 | 11% |
Nursing and Health Professions | 2 | 7% |
Psychology | 2 | 7% |
Other | 1 | 4% |
Unknown | 6 | 21% |