A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy

Gönül Çatli, Haruki Fujisawa, Özgür Kirbiyik, Mizuho S. Mimoto, Pinar Gençpinar, Taha Reşid Özdemir, Bumin Nuri Dündar, Alexandra M. Dumitrescu

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7 Citations (Scopus)

Abstract

SECISBP2 is an essential factor in selenoprotein synthesis, and its mutations result in a multiorgan syndrome, including abnormal thyroid hormone metabolism. A 10-year-old obese Turkish boy born to consanguineous parents presented with high thyroxine, low triiodothyronine, high reverse triiodothyronine, and normal or slightly elevated thyrotropin. He also had attention-deficit disorder and muscle weakness but no delay in growth or bone age. Sequencing of genomic DNA revealed a novel c.800-801insA, p.K267Kfs∗2 mutation, homozygous in the proband and heterozygous in both parents and his brother. Studies showed reduction in several selenoproteins in serum and fibroblasts.

Original languageEnglish
Pages (from-to)1221-1223
Number of pages3
JournalThyroid
Volume28
Issue number9
DOIs
Publication statusPublished - 09-2018
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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    Çatli, G., Fujisawa, H., Kirbiyik, Ö., Mimoto, M. S., Gençpinar, P., Özdemir, T. R., Dündar, B. N., & Dumitrescu, A. M. (2018). A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy. Thyroid, 28(9), 1221-1223. https://doi.org/10.1089/thy.2018.0015