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

doi:10.1089/thy.2018.0015

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

15 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
巻	28
号	9
DOI	https://doi.org/10.1089/thy.2018.0015
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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10.1089/thy.2018.0015

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

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.",

author = "G{\"o}n{\"u}l {\c C}atli and Haruki Fujisawa and {\"O}zg{\"u}r Kirbiyik and Mimoto, {Mizuho S.} and Pinar Gen{\c c}pinar and {\"O}zdemir, {Taha Re{\c s}id} and D{\"u}ndar, {Bumin Nuri} and Dumitrescu, {Alexandra M.}",

note = "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: {\textcopyright} Copyright 2018.",

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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.

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

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