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

研究成果: Article査読

10 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)1221-1223
ページ数3
ジャーナルThyroid
28
9
DOI
出版ステータスPublished - 09-2018
外部発表はい

All Science Journal Classification (ASJC) codes

  • 内分泌学、糖尿病および代謝内科学
  • 内分泌学

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