Spondylo-ocular Syndrome Due to a Novel Variant in XYLT2 in an Omani Patient

Musallam Al-Araimi; Nishath Hamza; Aliya Al-Hosni; Ashwaq Al Maimani

doi:10.1055/s-0040-1715113

Spondylo-ocular Syndrome Due to a Novel Variant in XYLT2 in an Omani Patient

J Pediatr Genet. 2020 Jul 29;11(1):59-62. doi: 10.1055/s-0040-1715113. eCollection 2022 Mar.

Authors

Musallam Al-Araimi¹, Nishath Hamza¹, Aliya Al-Hosni¹, Ashwaq Al Maimani¹

Affiliation

¹ Department of Clinical Genetics & Counseling, National Genetics Centre, Royal Hospital Muscat, Ministry of Health, Muscat, Sultanate of Oman.

Abstract

Spondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presented an Omani child with a novel homozygous variant, c.2070 G > A (p.Trp690Ter) in XYLT2 associated with SOS for the first time. Oman and other Middle East countries have a high consanguine marriage rate. Our case report will increase knowledge of SOS syndrome to be able to provide genetic diagnosis and counseling for other family members and families as well as prenatal diagnostics for the future pregnancies.

Keywords: cataract; scoliosis; spondylo-ocular syndrome.

Publication types

Case Reports