J Pediatr Genet 2022; 11(01): 059-062
DOI: 10.1055/s-0040-1715113
Case Report

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

1   Department of Clinical Genetics & Counseling, National Genetics Centre, Royal Hospital Muscat, Ministry of Health, Muscat, Sultanate of Oman
,
Nishath Hamza
1   Department of Clinical Genetics & Counseling, National Genetics Centre, Royal Hospital Muscat, Ministry of Health, Muscat, Sultanate of Oman
,
Aliya Al-Hosni
1   Department of Clinical Genetics & Counseling, National Genetics Centre, Royal Hospital Muscat, Ministry of Health, Muscat, Sultanate of Oman
,
Ashwaq Al Maimani
1   Department of Clinical Genetics & Counseling, National Genetics Centre, Royal Hospital Muscat, Ministry of Health, Muscat, Sultanate of Oman
› Author Affiliations

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.

Authors' Contributions

M.A.A. contributed in clinical assessment, article writing—editing and review of the study. N.H. performed conceptualization and wrote the original draft. A.A.H. performed editing and review of the manuscript. A.A.M. completed the technical analysis.


All the authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.


* Co-first authors




Publication History

Received: 30 April 2020

Accepted: 22 June 2020

Article published online:
29 July 2020

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