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Article

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Aug 2016

Taylan Fulya, Costantini Alice, Coles Nicole, Pekkinen Minna, Héon Elise, Şıklar Zeynep, Berberoğlu Merih, Kämpe Anders, Kıykım Ertuğrul, Grigelioniene Giedre, Tüysüz Beyhan, Mäkitie Outi

Abstract excerpt

Spondyloocular syndrome is an autosomal-recessive disorder with spinal compression fractures, osteoporosis, and cataract. Mutations in XYLT2, encoding isoform of xylosyltransferase, were recently identified as the cause of the syndrome. We report on 4 patients, 2 unrelated patients and 2 siblings, with spondyloocular syndrome and novel mutations in XYLT2. Exome sequencing revealed a homozygous nonsense mutation,...

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Identifiers

PMID: 26987875
DOI: 10.1002/jbmr.2834

Genes

XYLT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.PMID 26987875Read ↗

Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation.Semantic proximity Read ↗

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 ↗

[Clinical and genetic analysis of a child with Spondyloocular syndrome due to compound heterozygous variants of XYLT2 gene].Semantic proximity Read ↗

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

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

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.Semantic proximity Read ↗

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