PAX6 mutations identified in 4 of 35 families with microcornea.

[aniridia]

Mutations in paired box gene 6 (PAX 6 ) are the major cause of aniridia that may associate with several other developmental anomalies of the eye , including microcornea in rare cases . However , systemic evaluation of PAX 6 in patients with microcornea as the major sign has not been reported . This study aims to detect PAX 6 mutations in patients with microcornea .Genomic DNA of probands was prepared from 35 families with microcornea . The coding regions of PAX 6 were screened by Sanger sequencing and novel variations were further evaluated in 192 normal individuals . Bioinformatics analysis was used to evaluate the structural consequences related to the pathology of the mutations .The average corneal horizontal diameter of the 35 probands is 8 .03 Â± 1 .27 mm (the median value is 8 mm ). Among them , eight patients presented with normal iris , one had aniridia , and different severities of iris hypoplasia were detected in the rest . In four probands , three heterozygous variations in PAX 6 were identified : a novel c .83 _85 delAGA (p .Lys 28 del ) in two families ; a novel c .337 G >C (p .Ala 113 Pro ) in one family ; and a known c .399 _399 +5 del 6 in one family . None of the variations were detected in 192 normal individuals . Two of the four probands had partial iris while the other two presented with full iris .We identified two novel and a known mutation of PAX 6 in four probands with microcornea , accounting for 11 .4 % of microcorneas in this cohort . The findings not only expand the spectrum of PAX 6 mutations , but also suggest that PAX 6 mutations may be a common cause of microcornea .

Diseases
Validation

Diseases presenting "average corneal horizontal diameter" symptom

aniridia

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