Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype
Spondyloocular syndrome (SOS) is a skeletal disorder caused by pathogenic variants in XYLT2 gene encoding a xylotransferase involved in the biosynthesis of proteoglycans. This condition, with autosomal recessive inheritance, has a high phenotypic variability. It is characterized by bone abnormalitie...
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Frontiers Media S.A.
2021
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oai:doaj.org-article:f0f0382478784a97b012b7d2f97d62f22021-12-03T15:38:27ZSpondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype1664-802110.3389/fgene.2021.761264https://doaj.org/article/f0f0382478784a97b012b7d2f97d62f22021-12-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgene.2021.761264/fullhttps://doaj.org/toc/1664-8021Spondyloocular syndrome (SOS) is a skeletal disorder caused by pathogenic variants in XYLT2 gene encoding a xylotransferase involved in the biosynthesis of proteoglycans. This condition, with autosomal recessive inheritance, has a high phenotypic variability. It is characterized by bone abnormalities (osteoporosis, fractures), eye and cardiac defects, hearing impairment, and varying degrees of developmental delay. Until now only 20 mutated individuals have been reported worldwide. Here, we describe two siblings from consanguineous healthy parents in which a novel homozygous frameshift variant c.1586dup p(Thr530Hisfs*) in the XYLT2 gene was detected by exome sequencing (ES). The first patient (9 years) presented short stature with skeletal defects, long face, hearing loss and cataract. The second patient, evaluated at a few days of life, showed macrosomia, diffuse hypertrichosis on the back, overabundant skin in the retronucal area, flattened facial profile with drooping cheeks, elongated eyelid rims, wide and flattened nasal bridge and turned down corners of the mouth. During the prenatal period, high nuchal translucency and intestinal hyperechogenicity were observed at ultrasound. In conclusion, these two siblings with a novel pathogenic variant in XYLT2 further expand the clinical and mutational spectrum of SOS.Gabriella DoddatoGabriella DoddatoAlessandra FabbianiAlessandra FabbianiAlessandra FabbianiChiara FalleriniChiara FalleriniMirella BruttiniMirella BruttiniMirella BruttiniTheodora HadjistilianouMartino LandiCaterina CoradeschiSalvatore GrossoBarbara TomasiniMaria Antonietta MencarelliAlessandra RenieriAlessandra RenieriAlessandra RenieriFrancesca ArianiFrancesca ArianiFrancesca ArianiFrontiers Media S.A.articlespondyloocular syndrome (SOS)xylosyltransferase IIexome sequencing (ES)skeletal dysplasiaXYLT2GeneticsQH426-470ENFrontiers in Genetics, Vol 12 (2021) |
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spondyloocular syndrome (SOS) xylosyltransferase II exome sequencing (ES) skeletal dysplasia XYLT2 Genetics QH426-470 |
| spellingShingle |
spondyloocular syndrome (SOS) xylosyltransferase II exome sequencing (ES) skeletal dysplasia XYLT2 Genetics QH426-470 Gabriella Doddato Gabriella Doddato Alessandra Fabbiani Alessandra Fabbiani Alessandra Fabbiani Chiara Fallerini Chiara Fallerini Mirella Bruttini Mirella Bruttini Mirella Bruttini Theodora Hadjistilianou Martino Landi Caterina Coradeschi Salvatore Grosso Barbara Tomasini Maria Antonietta Mencarelli Alessandra Renieri Alessandra Renieri Alessandra Renieri Francesca Ariani Francesca Ariani Francesca Ariani Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype |
| description |
Spondyloocular syndrome (SOS) is a skeletal disorder caused by pathogenic variants in XYLT2 gene encoding a xylotransferase involved in the biosynthesis of proteoglycans. This condition, with autosomal recessive inheritance, has a high phenotypic variability. It is characterized by bone abnormalities (osteoporosis, fractures), eye and cardiac defects, hearing impairment, and varying degrees of developmental delay. Until now only 20 mutated individuals have been reported worldwide. Here, we describe two siblings from consanguineous healthy parents in which a novel homozygous frameshift variant c.1586dup p(Thr530Hisfs*) in the XYLT2 gene was detected by exome sequencing (ES). The first patient (9 years) presented short stature with skeletal defects, long face, hearing loss and cataract. The second patient, evaluated at a few days of life, showed macrosomia, diffuse hypertrichosis on the back, overabundant skin in the retronucal area, flattened facial profile with drooping cheeks, elongated eyelid rims, wide and flattened nasal bridge and turned down corners of the mouth. During the prenatal period, high nuchal translucency and intestinal hyperechogenicity were observed at ultrasound. In conclusion, these two siblings with a novel pathogenic variant in XYLT2 further expand the clinical and mutational spectrum of SOS. |
| format |
article |
| author |
Gabriella Doddato Gabriella Doddato Alessandra Fabbiani Alessandra Fabbiani Alessandra Fabbiani Chiara Fallerini Chiara Fallerini Mirella Bruttini Mirella Bruttini Mirella Bruttini Theodora Hadjistilianou Martino Landi Caterina Coradeschi Salvatore Grosso Barbara Tomasini Maria Antonietta Mencarelli Alessandra Renieri Alessandra Renieri Alessandra Renieri Francesca Ariani Francesca Ariani Francesca Ariani |
| author_facet |
Gabriella Doddato Gabriella Doddato Alessandra Fabbiani Alessandra Fabbiani Alessandra Fabbiani Chiara Fallerini Chiara Fallerini Mirella Bruttini Mirella Bruttini Mirella Bruttini Theodora Hadjistilianou Martino Landi Caterina Coradeschi Salvatore Grosso Barbara Tomasini Maria Antonietta Mencarelli Alessandra Renieri Alessandra Renieri Alessandra Renieri Francesca Ariani Francesca Ariani Francesca Ariani |
| author_sort |
Gabriella Doddato |
| title |
Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype |
| title_short |
Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype |
| title_full |
Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype |
| title_fullStr |
Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype |
| title_full_unstemmed |
Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype |
| title_sort |
spondyloocular syndrome: a novel xylt2 variant with description of the neonatal phenotype |
| publisher |
Frontiers Media S.A. |
| publishDate |
2021 |
| url |
https://doaj.org/article/f0f0382478784a97b012b7d2f97d62f2 |
| work_keys_str_mv |
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