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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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ey0021.8-10 | Important for Clinical Practice | ESPEYB21

8.10. Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert consensus statement

D Taieb , S Nolting , ND Perrier , M Fassnacht , JA Carrasquillo , AB Grossman , R Clifton-Bligh , GB Wanna , ZG Schwam , L Amar , I Bourdeau , RT Casey , J Crona , CL Deal , J Del Rivero , QY Duh , G Eisenhofer , T Fojo , HK Ghayee , AP Gimenez-Roqueplo , AJ Gill , R Hicks , A Imperiale , A Jha , MN Kerstens , RR de Krijger , A Lacroix , I Lazurova , FI Lin , C Lussey-Lepoutre , ER Maher , O Mete , M Naruse , N Nilubol , M Robledo , F Sebag , NS Shah , A Tanabe , GB Thompson , HJLM Timmers , J Widimsky , Jr Young WJ , L Meuter , JWM Lenders , K Pacak

Brief Summary: The management of phaeochromocytomas and paragangliomas in patients with pathogenic variants of succinate dehydrogenase complex iron sulfur subunit B ( SDHD ) gene is complex. An international group of experts performed a critical review of the evidence to produce this consensus statement to assist clinical decision-making.Comment: Pathogenic variants in succinate dehydrogenase complex iron sulfur subunit B ( SDHD ) gene ...

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ESPE Yearbook of Paediatric Endocrinology

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

8.10. Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert consensus statement

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