Team identifies new gene tied to neutropenia

In an abstract released ahead of the American Society of Hematology meeting in December, a French team led by researchers at Institut Gustave-Roussy identified a new gene associated with congenital neutropenia.

Whole-exome sequencing of eight patients and six families with congenital neutropenia identified mutations in the signal recognition particle 54 (SRP54) gene in three patients and an autosomal dominant family. Direct sequencing of SRP54 in an additional 66 congenital neutropenia patients identified 13 individuals and 2 families with SRP54 mutations. Between the two datasets, the authors found a total of 23 cases of neutropenia with an SRP54 mutation...