A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia

Journal of Inherited Metabolic Disease
Tessa van DijkBwee Tien Poll-The

Abstract

Mutations in the SEPSECS gene are associated with pontocerebellar hypoplasia type 2D. Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare autosomal recessive neurodegenerative disorders, mainly affecting pons and cerebellum. Patients have severe motor and cognitive impairments and often die during infancy. Here, we report a 23-year-old woman with slowly progressive cerebellar ataxia and cognitive impairment, in whom a homozygous missense mutation in the SEPSECS gene (c.1321G>A; p.Gly441Arg) was identified with whole exome sequencing. Our findings underline that defects in selenoprotein synthesis can also result in milder cerebellar atrophy presenting at a later age.

References

Oct 6, 2010·American Journal of Human Genetics·Orly AgamyOhad S Birk
Jan 26, 2016·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Efterpi PavlidouMaria Kinali

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Citations

Jun 16, 2018·Orphanet Journal of Rare Diseases·Tessa van DijkBwee Tien Poll-The
Dec 15, 2019·Cells·Muhammad Umair, Majid Alfadhel
Apr 17, 2020·Antioxidants & Redox Signaling·Erik Schoenmakers, Krishna Chatterjee
Oct 4, 2018·Current Environmental Health Reports·Marco VincetiLauren A Wise

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Methods Mentioned

BETA
glycosylation
exome sequencing

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