11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.

[aniridia]

Aniridia is a rare , bilateral , congenital ocular disorder causing incomplete formation of the iris , usually characterized by iris aplasia /hypoplasia . It can also appear with other ocular anomalies , such as cataracts , glaucoma , corneal pannus , optic nerve hypoplasia , macular hypoplasia , or ectopia lentis . In the majority of cases , it is caused by mutation in the PAX 6 gene , but it can also be caused by microdeletions that involve the 11 p 13 region . Twelve unrelated patients of Polish origin with a clinical diagnosis of aniridia were screened for the presence of microdeletions in the 11 p 13 region by means of multiplex ligation probe amplification (MLPA ). Additionally , the coding regions of the PAX 6 gene were sequenced in all probands . MLPA examination revealed different size deletions of the 11 p 13 region in five patients . In three cases , deletions encompassed the entire PAX 6 gene and a few adjacent genes . In one case , a fragment of the PAX 6 gene was deleted only . In the final case , the deletion did not include any PAX 6 sequence . Our molecular findings provide further evidence of the existence of the distant 3 ' regulatory elements in the downstream region of the PAX 6 gene , which is known from other studies to influence the level of protein expression . Sequence analysis of the PAX 6 gene revealed the three different point mutations in the remaining four patients with aniridia . All the detected mutations were reported earlier . Based on accomplished results , the great diversity of the molecular basis of aniridia was found . It varies from point mutations to different size deletions in the 11 p 13 region which encompass partly or completely the PAX 6 gene or cause a position effect .

Diseases
Validation

Diseases presenting "macular hypoplasia" symptom

aniridia

This symptom has already been validated