Ürel-Demir Gizem, Taşkıran Ekim Zihni, Akgün-Doğan Özlem, Şimşek-Kiper Pelin Özlem, Utine Gülen Eda
Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Eur J Med Genet. 2019 Jul;62(7):103664. doi: 10.1016/j.ejmg.2019.05.003. Epub 2019 May 5.
Ophthalmo-acromelic syndrome is a rare autosomal recessive disorder characterized by ocular and skeletal abnormalities. Ocular findings present as a wide spectrum, ranging from mild microphthalmia to true anophthalmia. Short 5th finger, synostosis of 4th and 5th metacarpals, and oligodactyly in feet are frequent limb malformations. Homozygous variants in the SMOC1 gene (SPARC-related modular calcium-binding protein 1 gene) were identified as causative for the syndrome. A 9-month-old female patient is presented herein, who was diagnosed with ophthalmo-acromelic syndrome and had a homozygous nonsense mutation (p.Arg75Ter) in SMOC1, along with a review of the literature.
眼-肢端综合征是一种罕见的常染色体隐性疾病，其特征为眼部和骨骼异常。眼部表现多种多样，从轻度小眼畸形到真正的无眼畸形。第五指短小、第四和第五掌骨融合以及足部多指畸形是常见的肢体畸形。SMOC1基因（富含半胱氨酸的酸性分泌蛋白相关模块化钙结合蛋白1基因）的纯合变异被确定为该综合征的病因。本文报告了一名9个月大的女性患者，她被诊断为眼-肢端综合征，SMOC1基因存在纯合无义突变（p.Arg75Ter），并对相关文献进行了综述。
