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Published on: August 15, 2019
Spondylo-ocular Syndrome Due to a Novel Variant in XYLT2 in an Omani Patient
Musallam Al-Araimi1, Nishath Hamza1, Aliya Al-Hosni1
1Department 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.
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