Two novel mutations in <i>XYLT2</i> cause spondyloocular syndrome

Taylan, Fulya; Abalı, Zehra Yavaş; Jäntti, Nina; Güneş, Nilay; Darendelıler, Feyza; Baş, Firdevs; Poyrazoğlu, Şükran; Tamçelik, Nevbahar; Tüysüz, Beyhan; Mäkitie, Outi

doi:10.1002/ajmg.a.38470

Cited by 23 publications

(21 citation statements)

References 12 publications

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“…2 Since then, 11 different variants in XYLT2 have been reported worldwide from European-Australian, Turkish, Iraqi, Canadian, and Pakistani ethnic backgrounds. [3][4][5][6] This is the first report of SOS from Oman and other Gulf-Arab populations.…”

Section: Introductionmentioning

confidence: 77%

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

et al. 2020

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Spondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presents 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.

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Section: Introductionmentioning

confidence: 77%

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

et al. 2020

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“…Recently, 2 groups have described SOS in seven other families of different ethnic backgrounds. 6,18,19 6,18,19 The are highly conserved ( Figure 2C) and might possibly affect secondary structure leading to non-functional XYLT2 protein.…”

Section: Discussionmentioning

confidence: 99%

“…These 2 families were characterized at a genetic level in the present study. Recently, 2 groups have described SOS in seven other families of different ethnic backgrounds . Further, they have reported disease‐causing mutations in the XYLT2 gene.…”

Section: Discussionmentioning

confidence: 99%

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Homozygous XYLT2 variants as a cause of spondyloocular syndrome

et al. 2018

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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 proteoglycans (PGs) leading to initiating the process of PG assembly. SOS was originally characterized in 2 families A and B of Iraqi and Turkish origin, respectively. Using DNA from affected members of the same 2 families, we performed whole exome sequencing, which revealed 2 novel homozygous missense variants (c.1159C > T, p.Arg387Trp) and (c.2548G > C, p.Asp850His). Our findings extend the body of evidence that SOS is caused by homozygous variants in the XYLT2 gene. In addition, this report has extended the phenotypic description of SOS by adding follow-up data from 5 affected individuals in one of the two families, presented here.

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“…Spondyloocular syndrome (OMIM 605822), a very rare form of autosomal recessive genetic skeletal dysplasia, was first defined and reported by Schmidt et al (2001), Taylan et al (2017). In recent years, spondyloocular syndrome (SOS) has been linked to variant in the xylosyltransferase II encoded by XYLT2 (MIM 608125) (Munns et al, 2015; Taylan et al, 2016).…”

Section: Introductionmentioning

confidence: 99%

A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family

et al. 2019

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We report on three new patients with spondyloocular syndrome (SOS) in a consanguineous Pakistani family. All three patients present progressive generalized osteoporosis, short stature, recurrent fractures, hearing loss and visual impairments. WES revealed a novel homozygous frameshift variant in exon 11 of XYLT2 (NG 012175.1, NP_071450.2) resulting in loss of evolutionary conserved amino acid sequences (840 – 865/865) at C-terminus p.R840fs∗115. Sanger Sequencing confirmed the presence of the novel homozygous mutation in all three patients while the parents were heterozygous carriers of the mutation, in accordance with an autosomal recessive inheritance pattern. Only nine variants worldwide have previously been reported in XYLT2 in patients with SOS phenotype. These three patients with novel homozygous variant extend the genotypic and phenotypic spectrum of SOS.

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Two novel mutations in XYLT2 cause spondyloocular syndrome

Cited by 23 publications

References 12 publications

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

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

Homozygous XYLT2 variants as a cause of spondyloocular syndrome

A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family

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