Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.

doi:10.1016/j.gim.2024.101280

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Article

Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2024

Stoupa Athanasia, Franca Monica Malheiros, Abdulhadi-Atwan Maha, Fujisawa Haruki, Korwutthikulrangsri Manassawee, Marchand Isis, Polak Gabrielle, Beltrand Jacques, Polak Michel, Kariyawasam Dulanjalee, Liao Xiao-Hui, Raimondi Chantalle, Steigerwald Connolly, Abreu Nicolas J, Bauer Andrew J, Carré Aurore, Taneja Charit, Mekhoubad Allison Bauman, Dumitrescu Alexandra M

Abstract excerpt

PURPOSE: Defects in the gene encoding selenocysteine insertion sequence binding protein 2, SECISBP2, result in global impaired selenoprotein synthesis manifesting a complex syndrome with characteristic serum thyroid function tests due to impaired thyroid hormone metabolism. Knowledge about this multisystemic defect remains limited. METHODS: Genetic and laboratory investigations were performed in affected members...

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Identifiers

PMID: 39315526
DOI: 10.1016/j.gim.2024.101280
PMCID: PMC11625595

Genes

SECISBP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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