講演情報
[PE4-10]無眼球症を契機にSOX2遺伝子異常症が疑われた1例
○近藤 朱音, 長尾 亜紀, 立花 綾香, 森根 幹生, 檜尾 健二, 岩井 艶子, 前田 和寿 (四国こどもとおとなの医療センター 遺伝医療センター)
The SOX2 gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX2 protein is especially important for the development of the eyes. Also, there are some reports regarding failure of pituitary function. Case: A boy referred to ophthalmology outpatient from local paediatrics clinic at 2 months old. He was born at 38w, Wt 2632g without asphyxia. Head CT and MRI at 2 months of age showed optic nerve and ocular muscles, however eyeballs are not clear at that time. He had further evaluation for whole body and it revealed possible hearing impairment and cryptorchidism. His karyotyping was 46,XY. He next came to hospital at age 6 because of developmental delay. At that time, Head MRI showed callosal hypoplasia but no other specific findings. 2 years later, when he was 8 y/o, he came to hospital because of growth retardation (-2.5～-3.0SD). Endocrinological examination showed hypopituitary. At this point, his parents remember this boy had whole exome analysis as research settings 2 years ago, but did not know the result. Finally, that analysis showed he has a pathogenic variant of SOX-OT. Take home message: SOX2 anophthalmia syndrome is estimated to affect 1 in 250,000 individuals. About 10-15 percent of people with anophthalmia in both eyes have SOX2. If the patient have seizures, brain abnormalities, slow growth, delayed walking, and mild to severe learning disabilities, it is important to consider genetic analysis to make a diagnosis for further medical support.