Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25
نویسندگان
چکیده
منابع مشابه
The 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 کاملCurrent molecular understanding of Axenfeld-Rieger syndrome.
Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant inherited disorder affecting the development of the eyes, teeth and abdomen. The syndrome is characterised by complete penetrance but variable expressivity. The ocular component of the ARS phenotype has acquired most clinical attention and has been dissected into a spectrum of developmental eye disorders, of which open-angle glaucoma r...
متن کاملA novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome
PURPOSE To report a case series of patients with novel forkhead box CI (FOXC1) mutations in a Korean family with Axenfeld-Rieger syndrome (ARS). METHODS Four members of the same family underwent complete ophthalmologic and systemic examinations and genetic analysis. Genomic DNA was isolated from peripheral blood leukocytes, and all coding exons with flanking intronic regions of the FOXC1 and ...
متن کاملRetinal detachment in Axenfeld-Rieger syndrome.
Three cases of the association between the Axenfeld-Rieger syndrome and retinal detachment in one family are described. Serious damage to the posterior segment of the eye in the Axenfeld-Rieger syndrome has not previously been reported.
متن کاملThe Axenfeld syndrome and the Rieger syndrome NAOMI
The Rieger syndrome is caused by an autosomal dominant gene which produces malformations of the anterior chamber of the eye and the teeth. Though a wide spectrum of additional malformations is found, they form no recognisable pattern and so their association is considered to be accidental (Alkemade, 1969). The Axenfeld syndrome consists of two of the three major eye malformations found in the R...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2000
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200354