Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis

Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis

ContextCongenital hypothyroidism (CH) is related to dyshormonogenesis in 15% to 40% of the world population and associated with homozygous or heterozygous variants in the main genes of the hormone synthesis pathway. Emerging diagnostic tools, such as next-generation sequencing (NGS), have been used...

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Bibliographic Details
Main Authors: Isabelle Oliver-Petit, Thomas Edouard, Virginie Jacques, Marie Bournez, Audrey Cartault, Solange Grunenwald, Frédérique Savagner
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-06-01
Series:Frontiers in Endocrinology
Subjects:
high throughput molecular screening
familial origin
oligogenicity
congenital hypothyroidism
thyroid dyshormonogenesis
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2021.657913/full

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