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Article

Homozygous XYLT2 variants as a cause of spondyloocular syndrome.

Clinical genetics - 1 Apr 2018

Umair M, Eckstein G, Rudolph G, Strom T, Graf E, Hendig D, Hoover J, Alanay J, Meitinger T, Schmidt H, Ahmad W

Abstract excerpt

Spondyloocular syndrome (SOS) is a rare autosomal recessive, skeletal disorder. Two recent studies have shown that it is the result of biallelic sequence variants in the XYLT2 gene with pleiotropic effects in multiple organs, including retina, heart muscle, inner ear, cartilage, and bone. The XYLT2 gene encodes xylosyltransferase 2, which catalyzes the transfer of xylose (monosaccharide) to the core protein of...

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Identifiers

PMID: 29136277
DOI: 10.1111/cge.13179

Genes

XYLT2

Variants

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Homozygous XYLT2 variants as a cause of spondyloocular syndrome.PMID 29136277Read ↗

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Two novel mutations in XYLT2 cause spondyloocular syndrome.Semantic proximity Read ↗

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Spondyloocular Syndrome: First Case of Rare Osseous and Ocular Syndrome from India with Novel Mutation and Expanded Phenotypic Spectrum.Semantic proximity Read ↗

Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes.Semantic proximity Read ↗

Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing DefectsSemantic proximity Read ↗

The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.Semantic proximity Read ↗

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