Abstract
Spondyloocular syndrome (SOS) is a rare autosomal recessive skeletal and ocular disorder with variable phenotypes. It is caused by pathogenic mutation in the XYLT2 gene, which encodes the enzyme xylo-transferase, necessary for the synthesis of proteoglycan. It is characterized by generalized osteoporosis, short stature, hearing impairment, eye abnormalities, and cardiac defects. Till date only 24 cases have been reported worldwide with no cases documented from India. We subjected the patient to relevant biochemical investigations and Dual Energy X-ray Absorptiometry (DEXA) scan along with Next Generation Clinical Exome Sequencing (NGCES). We report a case of 23-year-old male who presented with recurrent long bone fractures, congenital heart defects, eye abnormalities (bilateral corneal opacities and atrophic bulbi), and short stature. In addition, our patient also had genu valgum and right-sided hydrocele which have never been reported in SOS till date. On genetic analysis, NGCES revealed a novel pathogenic frameshift variant c.191_192 delCA, p.(Thr64fs*22) in the XYLT2 gene. The patient is doing well on six monthly zoledronic acid infusions.
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Acknowledgements
We would express gratitude to Department of Endocrinology SKIMS and Lal path lab for genetic analysis of this patient.
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MIB and AIW contributed to the design of manuscript, RAM finalized and approved the draft, AC critically analyzed the data, SA collected the data, and AQ drafted the manuscript.
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Misgar, R.A., Chhabra, A., Arora, S. et al. Spondyloocular Syndrome: First Case of Rare Osseous and Ocular Syndrome from India with Novel Mutation and Expanded Phenotypic Spectrum. Calcif Tissue Int 115, 204–210 (2024). https://doi.org/10.1007/s00223-024-01234-z
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DOI: https://doi.org/10.1007/s00223-024-01234-z