Article
Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C.
European journal of human genetics : EJHG - 1 Jan 2022
Bychkov Igor, Filatova Alexandra, Perelman Grigory, Proshlyakova Tatiana, Korotkova Daria, Klyushnikov Sergey, Karpova Maria, Tabakov Vyacheslav, Baydakova Galina, Ilyushkina Alexandra, Skoblov Mikhail, Zakharova Ekaterina
Abstract excerpt
Niemann-Pick disease type C (NP-C) (OMIM#257220) is a rare lysosomal storage disorder caused by pathogenic variants in either the NPC1 or NPC2 genes. It manifests with a wide spectrum of clinical symptoms and variable age of onset. We studied the impact of the frequent polymorphic variant c.2793 C > T (p.Asn931 = ), located in the donor splice site (SS) of NPC1 exon 18 on the penetrance of the rare synonymous...
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