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Christianson Syndrome - Europe PMC

Summarized by Plex Scholar
Last Updated: 16 April 2022

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Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report.

Materials and Methods : Next-generation sequencing of a tetrad was used to determine DNA mutations, and Sanger sequencing of proband's cDNA was used to determine the effects of a splice site variant on mRNA structure. Protein structure modeling revealed that the truncated protein is unlikely to produce any functionally useful SLC9A6 dimers. Molecular and bioinformatical investigation revealed the effects of a novel donor splice site variant in the SLC9A6 gene that results in truncated and functionally impaired protein, which accounts for the phenotype of CS.

Source link: https://europepmc.org/article/MED/35334527

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions