Article
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
Blood - 20 Sept 2018
Bellanné-Chantelot Christine, Schmaltz-Panneau Barbara, Marty Caroline, Fenneteau Odile, Callebaut Isabelle, Clauin Séverine, Docet Aurélie, Damaj Gandhi-Laurent, Leblanc Thierry, Pellier Isabelle, Stoven Cécile, Souquere Sylvie, Antony-Debré Iléana, Beaupain Blandine, Aladjidi Nathalie, Barlogis Vincent, Bauduer Frédéric, Bensaid Philippe, Boespflug-Tanguy Odile, Berger Claire, Bertrand Yves, Carausu Liana, Fieschi Claire, Galambrun Claire, Schmidt Aline, Journel Hubert, Mazingue Françoise, Nelken Brigitte, Quah Thuan Chong, Oksenhendler Eric, Ouachée Marie, Pasquet Marlène, Saada Véronique, Suarez Felipe, Pierron Gérard, Vainchenker William, Plo Isabelle, Donadieu Jean
Abstract excerpt
Congenital neutropenias (CNs) are rare heterogeneous genetic disorders, with about 25% of patients without known genetic defects. Using whole-exome sequencing, we identified a heterozygous mutation in the SRP54 gene, encoding the signal recognition particle (SRP) 54 GTPase protein, in 3 sporadic cases and 1 autosomal dominant family. We subsequently sequenced the SRP54 gene in 66 probands from the French CN...
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