[Identification of a novel PAX6 mutation in a family with congenital aniridia].

[aniridia]

To detect potential mutation in a Chinese family where two individuals were affected with hereditary congenital aniridia .Peripheral blood samples were taken for genomic DNA extraction . All of the 15 exons of PAX 6 gene were amplified with PCR . The product were purified with gel electrophoresis and sequenced .In both patients , a novel deletion mutation (c .957 -958 delCA ) in exon 13 of the PAX 6 gene was identified , which has produced a terminator codon . The same mutation was not found in healthy controls .A c .957 -958 delCA mutation of PAX 6 gene is probably the cause of aniridia in this Chinese family .

Diseases
Validation

Diseases presenting "aniridia" symptom

aniridia

kabuki syndrome

oculocutaneous albinism

This symptom has already been validated