We have located links that may give you full text access.
A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins.
Clinical Genetics 2018 November 25
X-Linked Intellectual Disability (XLID) refers to a clinically and genetically heterogeneous neurodevelopmental disorder, in which males are more heavily affected than females. Among the syndromic forms of XLID, identified by additional clinical signs as part of the disease spectrum, the association between XLID and severe myopia has been poorly characterized. We used Whole Exome Sequencing (WES) to study two Italian male twins presenting impaired intellectual function and adaptive behavior, in association with severe myopia and mild facial dysmorphisms. WES analysis detected the novel, maternally inherited, mutation c.916G>C (G306R) in the X-linked Heparan Sulfate 6-O- Sulfotransferase 2 (HS6ST2) gene. HS6ST2 transfers sulphate from adenosine 3'-phosphate, 5'-phosphosulphate (PAPS) to the 6th position of the N-sulphoglucosamine (GlcNS) residue in Heparan Sulfate (HS) proteoglycans. Low HS sulfation levels are associated with defective optic disc and stalk morphogenesis during mammalian visual system development. The c.916G>C variant affects the HS6ST2 substrate binding site and its effect was considered "deleterious" by in-silico tools. An In-vitro enzymatic assay showed that the HS6ST2 mutant isoform had significantly reduced sulphotransferase activity. Taken together, the results suggest that mutant HS6ST2 is possibly involved in the development of myopia and cognitive impairment, characteristics of the probands reported here. This article is protected by copyright. All rights reserved.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app