Spondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presents an Omani child with a novel homozygous variant, c.2070 G > A… Click to show full abstract
Spondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presents 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.
Journal Title: Journal of pediatric genetics
Year Published: 2020
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