Giray Bozkaya Ozlem, Ataman Esra, Aksel Kilicarslan Ozge, Cankaya Tufan, Ulgenalp Ayfer
Department of Pediatrics, Division of Pediatric Genetic Diseases, Faculty of Medicine, Dokuz Eylul University, 35340 Izmir, Turkey.
Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, 35340 Izmir, Turkey.
Mol Med Rep. 2016 Sep;14(3):2150-4. doi: 10.3892/mmr.2016.5467. Epub 2016 Jul 5.
Aniridia is a congenital, panocular abnormality which is characterized by partial or complete absence of iris and various degrees of iris hypoplasia. Mutations in the PAX6 gene are found in ~90% of cases with aniridia. The human PAX6 gene is located at chromosome 11p13 and encodes a transcriptional regulator that has crucial roles in the development of the eyes, central nervous system and pancreatic islets. The present study performed a clinical and genomic analysis of two families containing multiple cases of aniridia. All exons of the PAX6 gene of the probands were sequenced using the Sanger sequencing technique. A heterozygous non‑stop mutation in exon 14 was identified in the first family, which has been previously reported for a different ophthalmological pathology. This mutation causes on‑going translation of the mRNA into the 3'‑untranslated region. In the second family, a novel frameshift heterozygous deletion in exon 8 was identified.
无虹膜症是一种先天性全眼异常，其特征为虹膜部分或完全缺失以及不同程度的虹膜发育不全。约90%的无虹膜症病例中发现PAX6基因突变。人类PAX6基因位于11号染色体p13区，编码一种转录调节因子，该因子在眼睛、中枢神经系统和胰岛的发育中起关键作用。本研究对两个有多例无虹膜症的家系进行了临床和基因组分析。使用桑格测序技术对先证者的PAX6基因所有外显子进行测序。在第一个家系中鉴定出14号外显子的一个杂合性不间断突变，该突变先前已在另一种眼科病理中报道过。此突变导致mRNA持续翻译至3'非翻译区。在第二个家系中，鉴定出8号外显子一个新的移码杂合性缺失。
