Article
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
Nature genetics - 1 Dec 2012
Sun Yu, Bak Beata, Schoenmakers Nadia, van Trotsenburg A S Paul, Oostdijk Wilma, Voshol Peter, Cambridge Emma, White Jacqueline K, le Tissier Paul, Gharavy S Neda Mousavy, Martinez-Barbera Juan P, Stokvis-Brantsma Wilhelmina H, Vulsma Thomas, Kempers Marlies J, Persani Luca, Campi Irene, Bonomi Marco, Beck-Peccoz Paolo, Zhu Hongdong, Davis Timothy M E, Hokken-Koelega Anita C S, Del Blanco Daria Gorbenko, Rangasami Jayanti J, Ruivenkamp Claudia A L, Laros Jeroen F J, Kriek Marjolein, Kant Sarina G, Bosch Cathy A J, Biermasz Nienke R, Appelman-Dijkstra Natasha M, Corssmit Eleonora P, Hovens Guido C J, Pereira Alberto M, den Dunnen Johan T, Wade Michael G, Breuning Martijn H, Hennekam Raoul C, Chatterjee Krishna, Dattani Mehul T, Wit Jan M, Bernard Daniel J
Abstract excerpt
Congenital central hypothyroidism occurs either in isolation or in conjunction with other pituitary hormone deficits. Using exome and candidate gene sequencing, we identified 8 distinct mutations and 2 deletions in IGSF1 in males from 11 unrelated families with central hypothyroidism, testicular enlargement and variably low prolactin concentrations. IGSF1 is a membrane glycoprotein that is highly expressed in the...
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