Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study

20253 citationsJournal Article

Authors

Athanasia Stoupa · Inserm

Dulanjalee Kariyawasam · Délégation Paris 5

Fabienne Jabot‐Hanin · Centre National de la Recherche Scientifique

Adrien Nguyen Quoc · Inserm

Sylvain Hanein · Centre National de la Recherche Scientifique

Tioka Rabeony · Assistance Publique – Hôpitaux de Paris

Caroline Elie

Abstract

This work expands our understanding of the molecular causes of CHTD by demonstrating that digenic inheritance can be implicated, with deleterious variants in thyroid development and DUOX2/DUOXA2 genes. The complexity of this model implies a revision of the genetic landscape of CHTD and specific clinical care of patients during long-term follow-up.

Topics & Keywords

Congenital heart defects research Genetics and Neurodevelopmental Disorders Thyroid Disorders and Treatments

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: The Journal of Clinical Endocrinology & Metabolism

Volume 110, Issue 10, pp. e3489-e3502

DOI: 10.1210/clinem/dgaf004

Field-Weighted Citation Impact: 2.42