Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4)
نویسندگان
چکیده
منابع مشابه
Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3
PURPOSE A recurrent 17 bp duplication (c.657ins17bp) of a segment of the paired-like homeodomain transcription factor 3 (PITX3) gene on human chromosome 10 has been reported in seven families with autosomal dominant posterior polar cataracts with or without anterior segment mesenchymal dysgenesis (ASMD). ASMD can include Peters anomaly with corneal clouding, iridolenticular corneal adhesions, d...
متن کاملPosterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene.
BACKGROUND The authors recently identified three large genetically unrelated families with an identical 17 base pair duplication mutation in exon 4 of the PITX3 gene. Here, they report the detailed clinical phenotype. METHODS Affected and unaffected individuals in the three families with autosomal dominant posterior polar cataract underwent full clinical examination and donated blood samples ...
متن کاملA novel 1-bp deletion in PITX3 causing congenital posterior polar cataract
PURPOSE Cataracts are the most common cause of blindness worldwide. Inherited cataract is a clinically and genetically heterogeneous disease. Here we report a novel mutation in the paired-like homeodomain 3 (PITX3) gene segregating in a four generation English family with an isolated autosomal dominant posterior polar cataract. METHODS A genome-wide linkage was performed by means of single nu...
متن کاملPosterior polar cataract: A review.
Posterior polar cataract is a rare form of congenital cataract. It is usually inherited as an autosomal dominant disease, yet it can be sporadic. Five genes have been attributed to the formation of this disease. It is highly associated with complications during surgery, such as posterior capsule rupture and nucleus drop. The reason for this high complication rate is the strong adherence of the ...
متن کاملManagement of posterior polar cataract.
In this technique for managing posterior polar cataract, extreme care is taken not to overpressurize the anterior chamber or capsular bag to prevent posterior capsule rupture. Minimal hydrodissection and hydrodelineation are performed. The nucleus is extracted using minimal ultrasound energy. Viscodissection is used as a primary technique to mobilize the epinucleus and cortex. A protective laye...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2004
ISSN: 1468-6244
DOI: 10.1136/jmg.2004.020289