PAX6 analysis of two sporadic patients from southern China with classic aniridia.

[aniridia]

To investigate the paired box 6 (PAX 6 ) gene in two sporadic patients from southern China presenting with classic aniridia .The two sporadic patients underwent complete physical and ophthalmic examinations . Genomic DNA was extracted from the leukocytes of the peripheral blood collected from the families of the two sporadic patients and 100 unrelated control subjects from the same population . Exons 4 -13 of PAX 6 were amplified by polymerase chain reaction (PCR ) and sequenced directly . The ophthalmic examinations included best-corrected visual acuity , slit-lamp examination , fundus examination , optical coherence tomography , and Pentacam and Goldmann perimetry .The two patients were affected with aniridia accompanied by nystagmus . A heterozygous PAX 6 frameshift mutation in exon 7 , c .375 _376 delAG (p .Arg 125 SerfsX 7 ), was identified in sporadic patient 1 and not in any of the unaffected family members and normal controls . One novel mutation in exon 10 , c .868 _871 dupAGTT (p .Phe 291 X ), was detected in sporadic patient 2 . The frameshift mutation we identified has not previously been reported either in China or abroad .Although PAX 6 mutations and polymorphisms have been reported in various ethnic groups , we report , for the first time , the identification of one new PAX 6 mutation in Chinese aniridia patient .

Diseases
Validation

Diseases presenting "best-corrected visual acuity" symptom

aniridia

coats disease

oculocutaneous albinism

von hippel-lindau disease

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