EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

doi:10.1016/j.ajhg.2024.12.001

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Article

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

American journal of human genetics - 2 Jan 2025

Laugwitz Lucia, Buchert Rebecca, Olguín Patricio, Estiar Mehrdad A, Atanasova Mihaela, Jr Wilson Marques, Enssle Jörg, Marsden Brian, Avilés Javiera, González-Gutiérrez Andrés, Candia Noemi, Fabiano Marietta, Morlot Susanne, Peralta Susana, Groh Alisa, Schillinger Carmen, Kuehn Carolin, Sofan Linda, Sturm Marc, Bender Benjamin, Tomaselli Pedro J, Diebold Uta, Mueller Amelie J, Spranger Stephanie, Fuchs Maren, Freua Fernando, Melo Uirá Souto, Mattas Lauren, Ashtiani Setareh, Suchowersky Oksana, Groeschel Samuel, Rouleau Guy A, Yosovich Keren, Michelson Marina, Leibovitz Zvi, Bilal Muhammad, Uctepe Eyyup, Yesilyurt Ahmet, Ozdogan Orhan, Celik Tamer, Krägeloh-Mann Ingeborg, Riess Olaf, Rosewich Hendrik, Umair Muhammad, Lev Dorit, Zuchner Stephan, Schweizer Ulrich, Lynch David S, Gan-Or Ziv, Haack Tobias B

Abstract excerpt

Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an...

Topics

Humans
Selenoproteins
Male
Female
Animals
Neurodegenerative Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Child

Child, Preschool

Pedigree

Infant

Mutation

Phenotype

Selenocysteine

Alleles

Drosophila

Adolescent

Source

Open in PubMed Open full text

Identifiers

PMID: 39753114
DOI: 10.1016/j.ajhg.2024.12.001
PMCID: PMC11739927

Genes

EEFSEC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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