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Purpose  To explore possible genetic aberrations in a Chinese family with aniridia, ptosis and mental retardation, and provide genetic evidence for the prenatal diagnosis.    Methods  14 exons of PAX6 in the proband were sequenced by the Sanger sequencing technique. Multiplex ligation-dependent probe amplification (MLPA) technique was employed to further explore gene alterations of  PAX6 . Single nucleotide polymorphisms-array (SNP-array) assay was applied to screen potential pathologic genome-wide copy number variations (CNV).    Results  There were no detectable pathogenic mutations in the 14 exons of PAX6 in the proband. MLPA indicated a heterozygous deletion encompassing all PAX6 gene regions covered and a partial upstream region. SNP-array assay detected a heterozygous 11p13 microdeletion with a length of 518 kb in the proband, spanning two whole annotated genes, elongation factor protein 4 ( ELP4 ), the paired box gene 6 ( PAX6 ), and partial IMP1 inner-mitochondrial membrane ( IMMP1L ) gene. SNP-array revealed her affected brother carried the identical deletion.    Conclusions  The 518 kb heterozygous deletion in 11p13 encompassing  PAX6  should be the genetic etiology for the familial aniridia.

A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation