Ophthalmo-acromelic syndrome in an infant.

Gizem Ürel-Demir, Ekim Zihni Taşkıran, Özlem Akgün-Doğan, Pelin Özlem Şimşek-Kiper, Gülen Eda Utine

Journal: European journal of medical genetics 2019;62(7):103664

PMID: 31067494

Full Text on Elsevier Science View on PubMed

Abstract

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.

Address: Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: [email protected].; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

DOI: 10.1016/j.ejmg.2019.05.003

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MeSH Terms: Codon, Nonsense, Female, Homozygote, Humans, Infant, Osteonectin, Waardenburg Syndrome