Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.

ABSTRACT: Congenital neutropenia (CN) comprises a heterogeneous group of rare genetic disorders. While some CN cases present only with neutropenia, others present with additional extra-hematological manifestations. The most common cause of CN is variants in ELANE; however, approximately 30 other genes have been implicated. Despite this, the genetic basis remains unknown in roughly 30% of cases. The clinical and genetic heterogeneity of CN makes diagnosis particularly challenging. To address this, we conducted exome or genome sequencing of 60 patients with a suspected diagnosis of CN that remained unresolved following targeted sequencing. A genetic diagnosis was established in 25 patients (42%). Variants were identified in 15 different genes. Half of these cases involved genes traditionally as

SUBMITTER: Marti S 

PROVIDER: S-EPMC12159251 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature