期刊
THYROID
卷 28, 期 9, 页码 1221-1223出版社
MARY ANN LIEBERT, INC
DOI: 10.1089/thy.2018.0015
关键词
SECISBP2; SBP2; selenium; selenoprotein; deiodinase; thyroid hormone metabolism defect
资金
- NIH [DK110322]
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.
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