A new PAX6 mutation in familial aniridia.
نویسندگان
چکیده
منابع مشابه
A nonsense PAX6 mutation in a family with congenital aniridia
Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 cons...
متن کاملMutation spectrum of PAX6 in Chinese patients with aniridia
PURPOSE To identify mutations in the paired box 6 (PAX6) gene of 33 probands with aniridia and to reveal the mutational spectrum in the Chinese population. METHODS Unrelated probands with aniridia from 27 newly selected families and six previously analyzed families participated in this study. The coding regions of PAX6 in the 27 new families were analyzed using cycle sequencing. Families that...
متن کامل2137 Identification of a new mutation causing an aniridia in the PST domain of PAX6
fir-pose: Dorzolamide @ORE) is a topical carbonic anhydrase (CA) inhibitor that is approved for treatment of open-angle glauccma and ocular hypertension. DORE exerts its effects directly in the eye at substantially lower doses and therefore with less systemic exposure than oral CA inhibitors To evaluate DORZ's potential for systemic CA inhibition, maximum systemic exposure was simulated through...
متن کاملA deletion 3' to the PAX6 gene in familial aniridia cases.
PURPOSE PAX6 mutations cause aniridia as well as other various congenital eye abnormalities. Aniridia can be due to both point mutations and chromosomal deletions/rearrangements. Therefore, a complete search for PAX6 gene alterations in aniridia subjects requires a technically complex approach involving the comprehension of fluorescence in situ hybridization (FISH) analysis. In the present stud...
متن کاملA rare PAX6 mutation in a Chinese family with congenital aniridia.
Aniridia is an autosomal dominant disorder characterized by the complete or partial loss of the iris and is almost associated with mutations in the paired box gene 6 (PAX6). We examined three generations of a Chinese family with congenital aniridia and observed genetic defects. Exons of PAX6 from 12 family members were amplified by polymerase chain reaction, sequenced, and compared with referen...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1995
ISSN: 1468-6244
DOI: 10.1136/jmg.32.6.488