Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report
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چکیده
منابع مشابه
Identification of the first intragenic deletion of PITX2 gene causing an Axenfeld-Rieger- Syndrome
Identification of the first intragenic deletion of PITX2 gene causing an Axenfeld-RiegerSyndrome. Guillaume de la Houssaye, Ivan Bieche, Olivier Roche, Véronique Vieira, Ingrid Laurendeau, Laurence Arbogast, Hatem Zeghidi, Philippe Rapp, Philippe Halimi, Michel Vidaud, Maurice Menasche, Jean-Louis Dufier 1,3 & Marc Abitbol * 1 Centre de Recherche Thérapeutique en Ophtalmologie, EA n°2502, Facul...
متن کاملIdentification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
PURPOSE Axenfeld Rieger syndrome (ARS) is an autosomal dominant inherited disorder affecting development of the ocular anterior chamber, abdomen, teeth and facial structures. The PITX2 gene is a major gene encoding a major transcription factor associated with ARS. METHODS ARS patients were collected from six unrelated families. Patients and their families were ophthalmologically phenotyped an...
متن کاملMissed case of Axenfeld-Rieger syndrome: a case report
BACKGROUND Anterior segment dysgenesis is a failure of normal development of the anterior segment of the eye. The structural anomalies are associated with glaucoma and corneal opacity which may lead to blindness. CASE PRESENTATION A Caucasian male was noted to have 'funny pupils' at the age of seven years but not followed up. He was diagnosed to have Axenfeld-Rieger syndrome at the age of thi...
متن کاملThe Axenfeld syndrome and the Rieger syndrome.
A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of the same gene. We also review the associated anomalies already reported, emphasise their high incidence, suggest that these are not accidental associations, and propose some possible explanations for the high incidence.
متن کاملAxenfeld-Rieger syndrome associated with truncus arteriosus: a case report.
The aim of this presentation was to report a case with Axenfeld-Rieger syndrome (ARS) associated with truncus arteriosus (TA). We present a 14-year-old boy with ARS in whom the diagnosis was confirmed by ophthalmologic examination and developmental defects of the teeth and facial bones. Echocardiography revealed TA. With this case demonstrating the association between ARS and TA, the range of r...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2006
ISSN: 1471-2350
DOI: 10.1186/1471-2350-7-82