A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literature.

ABSTRACT:

Background

Mutations in the MECOM gene have been recognized as a causative factor in MECOM-associated syndrome, which encompasses a spectrum of hematologic and extra-hematologic manifestations. Hematologic features range from isolated thrombocytopenia to severe bone marrow failure, while extra-hematologic manifestations may include skeletal, cardiac, renal, and other abnormalities. Here, we present a case of a Han Chinese newborn with a previously unreported variant in the MECOM gene.

Case presentation

We report a 0-day-old female Han Chinese neonate who presented with severe thrombocytopenia and intracranial hemorrhage, ultimately succumbing to multiple organ failure and intracranial hemorrhage on the third day after birth. Genetic sequencing identified a heterozygous frame

SUBMITTER: Li J 

PROVIDER: S-EPMC11960019 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature