Analysis of PAX6 gene mutation in a family affected with congenital aniridia / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify potential mutation of the PAX6 gene in a family affected with congenital aniridia from northeastern China.</p><p><b>METHODS</b>Two patients were collected from the family and underwent full ophthalmologic examinations. Genomic DNA was extracted from all family numbers and 100 healthy controls. The coding regions and flanking sequence of the PAX6 gene were amplified by PCR amplification and subjected to bidirectional DNA sequencing.</p><p><b>RESULTS</b>A nonsense mutation (c.718 C>T) was identified in exon 9 in both patients but not in other unaffected families or the 100 healthy controls. However, obvious difference was noted in the phenotype between the two patients. One of the patient has presented irregular cornea, which was infrequently reported.</p><p><b>CONCLUSION</b>A c.718C>T transitional mutation has been found to underlie the aniridia, which showed an autosomal dominant inheritance pattern in this northeastern Chinese family.</p>