Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis
Joint Authors
Chen, Xi
Kong, Xiaohong
Zhu, Jie
Zhang, Tingting
Li, Yanwei
Ding, Guifeng
Wang, Huijuan
Source
International Journal of Endocrinology
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-14, 14 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-08-02
Country of Publication
Egypt
No. of Pages
14
Main Subjects
Abstract EN
Objective.
Thyroid dyshormonogenesis (DH) is a genetically heterogeneous inherited disorder caused by thyroid hormone synthesis abnormalities.
This study aims at comprehensively characterizing the mutation spectrum in Chinese patients with DH.
Subjects and Methods.
We utilized next-generation sequencing to screen for mutations in seven DH-associated genes (TPO, DUOX2, TG, DUOXA2, SLC26A4, SLC5A5, and IYD) in 21 Chinese Han patients with DH from Xinjiang Province.
Results.
Twenty-eight rare nonpolymorphic variants were found in 19 patients (90.5%), including 19, 5, 3, and 1 variants in DUOX2, TG, DUOXA2, and SLC26A4, respectively.
Thirteen (62%) patients carried monogenic mutations, and six (28.5%) carried oligogenic mutations.
Fifteen (71%) patients carried 2 or more DUOX2 (14) or DUOXA2 (1) variants.
The genetic basis of DH in nine (43%) patients harboring biallelic or triallelic pathogenic variants was resolved.
Seventeen patients (81%) carried DUOX2 mutations, most commonly p.R1110Q or p.K530X.
No correlations were found between DUOX2 mutation types or numbers and clinical phenotypes.
Conclusions.
DUOX2 mutations were the most predominant genetic alterations of DH in the study cohort.
Oligogenicity may explain the genetic basis of disease in many DH patients.
Functional studies and further clinical studies with larger DH patient cohorts are needed to validate the roles of the mutations identified in this study.
American Psychological Association (APA)
Chen, Xi& Kong, Xiaohong& Zhu, Jie& Zhang, Tingting& Li, Yanwei& Ding, Guifeng…[et al.]. 2018. Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis. International Journal of Endocrinology،Vol. 2018, no. 2018, pp.1-14.
https://search.emarefa.net/detail/BIM-1172262
Modern Language Association (MLA)
Chen, Xi…[et al.]. Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis. International Journal of Endocrinology No. 2018 (2018), pp.1-14.
https://search.emarefa.net/detail/BIM-1172262
American Medical Association (AMA)
Chen, Xi& Kong, Xiaohong& Zhu, Jie& Zhang, Tingting& Li, Yanwei& Ding, Guifeng…[et al.]. Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis. International Journal of Endocrinology. 2018. Vol. 2018, no. 2018, pp.1-14.
https://search.emarefa.net/detail/BIM-1172262
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1172262