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Title: A novel homozygous frameshift variant in XYLT2 causes spondyloocular syndrome in a consanguineous Pakistani family
Authors: Kausar, Mehran
Chew, Elaine Guo Yan
Ullah, Hazrat
Anees, Mariam
Khor, Chiea Chuen
Foo, Jia Nee
Makitie, Outi
Siddiqi, Saima
Keywords: Spondyloocular Syndrome (SOS)
Whole-Exome-Sequencing (WES)
Issue Date: 2019
Source: Kausar, M., Chew, E. G. Y., Ullah, H., Anees, M., Khor, C. C., Foo, J. N., . . . Siddiqi, S. (2019). A novel homozygous frameshift variant in XYLT2 causes spondyloocular syndrome in a consanguineous Pakistani family. Frontiers in Genetics, 10, 144-. doi:10.3389/fgene.2019.00144
Series/Report no.: Frontiers in Genetics
Abstract: 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.
DOI: 10.3389/fgene.2019.00144
Rights: © 2019 Kausar, Chew, Ullah, Anees, Khor, Foo, Makitie and Siddiqi. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Fulltext Permission: open
Fulltext Availability: With Fulltext
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