Mutations in BOREALIN cause thyroid dysgenesis.
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ABSTRACT:
SUBMITTER: Carre A
PROVIDER: S-EPMC6311960 | biostudies-literature | 2017 Feb
REPOSITORIES: biostudies-literature
Publications
Mutations in BOREALIN cause thyroid dysgenesis.
Carré Aurore A Stoupa Athanasia A Kariyawasam Dulanjalee D Gueriouz Manelle M Ramond Cyrille C Monus Taylor T Léger Juliane J Gaujoux Sébastien S Sebag Frédéric F Glaser Nicolas N Zenaty Delphine D Nitschke Patrick P Bole-Feysot Christine C Hubert Laurence L Lyonnet Stanislas S Scharfmann Raphaël R Munnich Arnold A Besmond Claude C Taylor William W Polak Michel M
Human molecular genetics 20170201 3
Congenital hypothyroidism is the most common neonatal endocrine disorder and is primarily caused by developmental abnormalities otherwise known as thyroid dysgenesis (TD). We performed whole exome sequencing (WES) in a consanguineous family with TD and subsequently sequenced a cohort of 134 probands with TD to identify genetic factors predisposing to the disease. We identified the novel missense mutations p.S148F, p.R114Q and p.L177W in the BOREALIN gene in TD-affected families. Borealin is a ma ...[more]
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