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Article

Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.

The Journal of clinical endocrinology and metabolism - 1 Mar 2020

Fu Jiao, Korwutthikulrangsri Manassawee, Gönç E Nazli, Sillers Laura, Liao Xiao-Hui, Alikaşifoğlu Ayfer, Kandemir Nurgün, Menucci Maria Belen, Burman Kenneth D, Weiss Roy E, Dumitrescu Alexandra M

Abstract excerpt

CONTEXT: Selenocysteine insertion sequence binding protein 2 (SECISBP2, SBP2) is an essential factor for selenoprotein synthesis. Individuals with SBP2 defects have characteristic thyroid function test (TFT) abnormalities resulting from deficiencies in the selenoenzymes deiodinases. Eight families with recessive SBP2 gene mutations have been reported to date. We report 2 families with inherited defect in thyroid...

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Child, Preschool
Heterozygote
Pedigree
RNA-Binding Proteins
Selenoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Thyroid Diseases

Thyroid Function Tests

Thyroid Hormones

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Identifiers

PMID: 32084277
DOI: 10.1210/clinem/dgz169
PMCID: PMC7034949

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Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.PMID 32084277Read ↗

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