Article
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
The Journal of clinical investigation - 1 Nov 2017
Carapito Raphael, Konantz Martina, Paillard Catherine, Miao Zhichao, Pichot Angélique, Leduc Magalie S, Yang Yaping, Bergstrom Katie L, Mahoney Donald H, Shardy Deborah L, Alsaleh Ghada, Naegely Lydie, Kolmer Aline, Paul Nicodème, Hanauer Antoine, Rolli Véronique, Müller Joëlle S, Alghisi Elisa, Sauteur Loïc, Macquin Cécile, Morlon Aurore, Sancho Consuelo Sebastia, Amati-Bonneau Patrizia, Procaccio Vincent, Mosca-Boidron Anne-Laure, Marle Nathalie, Osmani Naël, Lefebvre Olivier, Goetz Jacky G, Unal Sule, Akarsu Nurten A, Radosavljevic Mirjana, Chenard Marie-Pierre, Rialland Fanny, Grain Audrey, Béné Marie-Christine, Eveillard Marion, Vincent Marie, Guy Julien, Faivre Laurence, Thauvin-Robinet Christel, Thevenon Julien, Myers Kasiani, Fleming Mark D, Shimamura Akiko, Bottollier-Lemallaz Elodie, Westhof Eric, Lengerke Claudia, Isidor Bertrand, Bahram Seiamak
Abstract excerpt
Shwachman-Diamond syndrome (SDS) (OMIM #260400) is a rare inherited bone marrow failure syndrome (IBMFS) that is primarily characterized by neutropenia and exocrine pancreatic insufficiency. Seventy-five to ninety percent of patients have compound heterozygous loss-of-function mutations in the Shwachman-Bodian-Diamond syndrome (sbds) gene. Using trio whole-exome sequencing (WES) in an sbds-negative SDS family and...
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