TY - JOUR
T1 - A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy
AU - Çatli, Gönül
AU - Fujisawa, Haruki
AU - Kirbiyik, Özgür
AU - Mimoto, Mizuho S.
AU - Gençpinar, Pinar
AU - Özdemir, Taha Reşid
AU - Dündar, Bumin Nuri
AU - Dumitrescu, Alexandra M.
N1 - Funding Information:
This work was supported by NIH grant DK110322 (A.M.D.). We thank Miles Tracy for performing the TFTs and Dr. Samuel Refetoff for revision of the manuscript.
Publisher Copyright:
© Copyright 2018.
PY - 2018/9
Y1 - 2018/9
N2 - 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.
AB - 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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U2 - 10.1089/thy.2018.0015
DO - 10.1089/thy.2018.0015
M3 - Article
C2 - 29882503
AN - SCOPUS:85053384953
VL - 28
SP - 1221
EP - 1223
JO - Thyroid
JF - Thyroid
SN - 1050-7256
IS - 9
ER -