Investigating TSHR gene variants in consanguineous families: novel insights into variable expression in familial congenital hypothyroidism
This study investigated the variants of the <i>TSHR</i> gene contributing to CH for the first time in Iran. Our study on multiplex consanguineous families could help provide further evidence for the elucidation of the oligogenic inheritance in CH, possibly leading to variable expressivity in patients with CH. These data could have implications for genetic diagnosis and counseling to identify deleterious variants for possible diagnostics, clinical management, and preventive aims.
Authors
- Sajjad Biglari (ORCID: https://orcid.org/0000-0002-6688-3219)
- Sam Mirfendereski (ORCID: https://orcid.org/0000-0002-6153-5696)
- Newsha Molavi (ORCID: https://orcid.org/0000-0002-7892-8576)
- Mohammad Amin Tabatabaiefar (ORCID: https://orcid.org/0000-0003-0730-750X)
- Constantin Polychronakos (ORCID: https://orcid.org/0000-0002-7624-6635)
- Mahin Hashemipour (ORCID: https://orcid.org/0000-0002-6032-5523)
- Zakiye Nadeali
- Zohreh Mohammadi-Zaniani
- Khashayar Zardoui
Institutions
- Isfahan University of Medical Sciences (IR)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2025-05-05
- DOI
- https://doi.org/10.3389/fendo.2025.1559281
- Citations
- 2
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- McGill University Health Centre
- Isfahan University of Medical Sciences