Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

摘要: Renal-coloboma syndrome is a recently described autosomal dominant of abnormal optic nerve and renal development. Two families have been reported with renal-coloboma mutations the PAX2 gene. The gene, which encodes DNA-binding protein, expressed in developing ear, CNS, eye, urogenital tract. Ocular and/or abnormalities consistently noted five reports patients syndrome, to date, but expression patterns suggest that auditory CNS may be additional features syndrome. To determine whether clinical are associated mutations, we used PCR-SSCP identify gene patients. We report here four exon 2, one whom has severe ocular disease, microcephaly, retardation, another who disease high-frequency hearing loss. Unexpectedly, extreme variability presentation was observed between mother, her son, an unrelated patient, all had same mutation as previously two siblings These results sequence seven Gs 2 particularly prone mutation.