Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism

Molecular and Cellular Endocrinology
Xuyun HuYiping Shen

Abstract

Mutations in Thyroglobulin (TG) are common genetic causes of congenital hypothyroidism (CH). But the TG mutation spectrum and its frequency in Chinese CH patients have not been investigated. Here we conducted a genetic screening of TG gene in a cohort of 382 Chinese CH patients. We identified 22 rare non-polymorphic variants including six truncating variants and 16 missense variants of unknown significance (VUS). Seven patients carried homozygous pathogenic variants, and three patients carried homozygous or compound heterozygous VUS. 48 out of 382 patients carried one of 18 heterozygous VUS which is significantly more often than their occurrences in control cohort (P < 0.0001). Unique to Asian population, the c.274+2T>G variant is the most common pathogenic variant with an allele frequency of 0.021. The prevalence of CH due to TG gene defect in Chinese population was estimated to be approximately 1/101,000. Our study uncovered ethnicity specific TG mutation spectrum and frequency.

References

Oct 3, 2001·European Journal of Endocrinology·F M MendiveH M Targovnik
Dec 22, 2004·Arquivos brasileiros de endocrinologia e metabologia·Jussara Vono-Toniolo, Peter Kopp
May 3, 2005·Journal of Medical Genetics·S M Park, V K K Chatterjee
May 25, 2006·The Journal of Clinical Endocrinology and Metabolism·Akira HishinumaTamio Ieiri
Jul 4, 2008·The Journal of Clinical Investigation·Jaemin LeePeter Arvan
Oct 20, 2009·The Journal of Clinical Endocrinology and Metabolism·Dau-Ming NiuTjin-Shing Jap
Jan 23, 2010·Molecular and Cellular Endocrinology·Héctor M TargovnikCarina M Rivolta
Apr 23, 2010·The Journal of Clinical Endocrinology and Metabolism·D Peteiro-GonzalezJ Lado-Abeal
Mar 5, 2011·Hormone Research in Pædiatrics·Héctor M TargovnikCarina M Rivolta
Jun 4, 2011·The Journal of Biological Chemistry·Jaemin Lee, Peter Arvan
Sep 9, 2011·The Journal of Clinical Endocrinology and Metabolism·Satoshi NarumiTomonobu Hasegawa
Nov 21, 2012·Molecular and Cellular Endocrinology·Cintia E CitterioHéctor M Targovnik
Mar 5, 2013·European Journal of Pediatrics·Patrizia AgrettiMassimo Tonacchera
Aug 13, 2013·Molecular and Cellular Endocrinology·Cintia E CitterioHéctor M Targovnik
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
May 1, 2015·Journal of Pediatric Endocrinology & Metabolism : JPEM·Mari SatohTsutomu Saji

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Citations

Sep 30, 2017·Molecular Biology and Evolution·Ming-Shan WangYa-Ping Zhang
Jun 19, 2020·3 Biotech·Yedukondalu KollatiVijaya R Dirisala
Aug 30, 2018·International Journal of Endocrinology·Xi ChenHuijuan Wang
Nov 22, 2019·Molecular and Cellular Endocrinology·Héctor M TargovnikCarina M Rivolta
Jan 24, 2020·Molecular and Cellular Endocrinology·Cintia E CitterioHéctor M Targovnik
Mar 11, 2021·Molecular and Cellular Endocrinology·Cintia E CitterioHéctor M Targovnik
Jun 14, 2021·Molecular and Cellular Endocrinology·Mauricio Gomes PioHéctor M Targovnik

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