Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement.

ABSTRACT: Known genetic disorders, such as Noonan syndrome and Down syndrome, can present in the neonatal period or early infancy with myeloproliferative disease (MPD) or abnormal myelopoiesis, which often self-resolves. This phenomenon results from an imbalance in differentiation and cell regulation caused by the genetic condition during perinatal hematopoiesis. Recently, SH2B3 variants have also been associated with neonatal MPD. However, data on their clinical significance, particularly across the spectrum of extra-hematological manifestations, of SH2B3 variants remain limited. Here, we describe the clinical features of ten children with SH2B3-associated disease, arising from germline biallelic SH2B3 loss-of-function (LoF) mutations in eight patients and in two patients from monoallelic germline

SUBMITTER: Leardini D 

PROVIDER: S-EPMC12402439 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature