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

• Published in: Thyroid (New York, N.Y.) Vol. 28; no. 9; p. 1221
• Main Authors: Çatli, Gönül, Fujisawa, Haruki, Kirbiyik, Özgür, Mimoto, Mizuho S, Gençpinar, Pinar, Özdemir, Taha Reşid, Dündar, Bumin Nuri, Dumitrescu, Alexandra M
• Format: Journal Article
• Language: English
• Published: United States 01-09-2018
• Subjects: Attention Deficit Disorder with Hyperactivity - blood; Attention Deficit Disorder with Hyperactivity - genetics; Child; Humans; Male; Muscle Weakness - blood; Muscle Weakness - genetics; Mutagenesis, Insertional; Obesity - blood; Obesity - genetics; RNA-Binding Proteins - genetics; Thyroxine - blood; Triiodothyronine - blood; Turkey; Turkey; selenoprotein; thyroid hormone metabolism defect; selenium; SECISBP2; SBP2; deiodinase
• ISSN: 1557-9077
• DOI: 10.1089/thy.2018.0015

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.