hrp0092fc5.5 | Thyroid | ESPE2019

Identification of TRPC4AP as a Novel Candidate Gene Causing Thyroid Dysgenesis

Eberle Birgit , Choukair Daniela , Vick Philipp , Hermanns Pia , Weiß Birgit , Paramasivam Nagarajan , Schlesner Matthias , Wiemann Stefan , Roeth Ralph , Klutmann Carina , Hoffmann Georg F. , Pohlenz Joachim , Rappold Gudrun A. , Bettendorf Markus

Background: Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and is predominantly caused by developmental abnormalities known as thyroid dysgenesis (TD). Several transcription factors have been described in its aetiology, but defects in the known genes only account for a small proportion of cases.Methods: To identify novel genes involved in TD, we performed exome sequencing in 7 unrelated ...