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3.9. Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

M Li , SY Nishio , C Naruse , M Riddell , S Sapski , T Katsuno , T Hikita , F Mizapourshafiyi , FM Smith , LT Cooper , MG Lee , M Asano , T Boettger , M Krueger , A Wietelmann , J Graumann , BW Day , AW Boyd , S Offermanns , SI Kitajiri , SI Usami , M Nakayama

To read the full abstract: Nat Commun. 2020;11:1343.Li et al. describe a new genetic mechanism causing Pendred syndrome and extend evidence for an oligogenic origin of congenital hypothyroidism (CH). Autosomal recessive mutations in Pendrin (PDS/SCL26A4 ) were described in 1997 to cause Pendred syndrome [1]. However, over the years patients with either only heterozygous or even no mutation in PDS/SLC26A4 have been diag...

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ESPE Yearbook of Paediatric Endocrinology

3.9. Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

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