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

Research output: Contribution to journal › Article › peer-review

22 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1221-1223
Number of pages	3
Journal	Thyroid
Volume	28
Issue number	9
DOIs	https://doi.org/10.1089/thy.2018.0015
Publication status	Published - 09-2018
Externally published	Yes

All Science Journal Classification (ASJC) codes

Endocrinology, Diabetes and Metabolism
Endocrinology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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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.",

keywords = "SBP2, SECISBP2, deiodinase, selenium, selenoprotein, thyroid hormone metabolism defect",

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year = "2018",

month = sep,

doi = "10.1089/thy.2018.0015",

language = "English",

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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.

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.

KW - SBP2

KW - SECISBP2

KW - deiodinase

KW - selenium

KW - selenoprotein

KW - thyroid hormone metabolism defect

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

Abstract

All Science Journal Classification (ASJC) codes

UN SDGs

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