Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.
congenital hypothyroidism
familial origin
high throughput molecular screening
oligogenicity
thyroid dyshormonogenesis
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2021
2021
Historique:
received:
24
01
2021
accepted:
31
05
2021
entrez:
12
7
2021
pubmed:
13
7
2021
medline:
22
1
2022
Statut:
epublish
Résumé
Congenital 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 to efficiently explore panels of genes and identify complex mechanisms of pathogenesis. We explored 19 candidate genes known to be causative for permanent or transient CH to evaluate the role of complex gene variations in CH phenotype. Using the NGS approach, we studied 65 newborns with thyroid dyshormonogenesis (TDH). New variants were assessed Among the 65 infants, 56.9% presented a variant in one or more genes of the thyroid hormone synthesis axis. We identified homozygous or compound heterozygous variants in the The systematic exploration of genes involved in thyroid hormone synthesis by NGS in TDH showed high diagnostic relevance. Oligogenic inheritance could be related to phenotypic heterogeneity and a high frequency of goiter.
Identifiants
pubmed: 34248839
doi: 10.3389/fendo.2021.657913
pmc: PMC8264654
doi:
Substances chimiques
Autoantigens
0
Iron-Binding Proteins
0
Receptors, Thyrotropin
0
Symporters
0
TSHR protein, human
0
sodium-iodide symporter
4XE5NDT4K1
Dual Oxidases
EC 1.11.1.-
TPO protein, human
EC 1.11.1.7
Iodide Peroxidase
EC 1.11.1.8
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
657913Informations de copyright
Copyright © 2021 Oliver-Petit, Edouard, Jacques, Bournez, Cartault, Grunenwald and Savagner.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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