Article
A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations.
Blood - 15 May 2025
Borbaran Bravo Natalia, Deordieva Ekaterina, Doll Larissa, ElGamacy Mohammad, Dannenmann Benjamin, Azevedo Joana, Iannuzzo Alberto, Delafontaine Selket, Lehners Moritz, Kolodziej Marius, Hernandez Alvarez Birte, Hellmuth Anna-Sophia, Ritter Malte, Findik Betül, Zakharova Viktoria, Bräuning Sandro, Kandabarau Sergey, Lengerke Claudia, Feil Robert, Meyts Isabelle, Delon Jérôme, Templin Markus, Sturm Marc, Rieß Olaf, Zeidler Cornelia, Welte Karl, Shcherbina Anna, Klimiankou Maksim, Skokowa Julia
Abstract excerpt
ABSTRACT: We have identified a new inherited bone marrow failure syndrome with severe congenital neutropenia (CN) caused by autosomal recessive mutations in the coatomer protein complex I (COPI) subunit zeta 1 (COPZ1) gene. A stop-codon COPZ1 mutation and a missense (MS) mutation were found in 3 patients from 2 unrelated families. Although 2 affected siblings with a stop-codon COPZ1 mutation suffered from CN that...
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