title: A neonate with congenital amegakaryocytic thrombocytopenia associated with a chromosomal microdeletion at 21q22.11 including the gene RUNX1.
abstract: We observed a neonate who had severe thrombocytopenia wherein evaluations for neonatal immune-mediated thrombocytopenia and congenital infections were negative, and the marrow findings were consistent with congenital amegakaryocytic thrombocytopenia (CAMT). A genomic microarray identified a microdeletion at 21q22.11 including the gene RUNX1. Two somewhat similar cases were recently reported, but with multiple congenital anomalies that are not present in our case. We propose that a 21q22 deletion resulting in RUNX1 haploinsufficiency can produce a phenotype similar to CAMT with various associated anomalies depending on which adjacent genes are absent or disrupted.
authors: Department of Women and Newborns, Intermountain Healthcare, Ogden, UT 84403, USA. rdchris4@ihc.com
authors: R D
authors: RD
authors: Christensen
authors: S E
authors: SE
authors: Wiedmeier
authors: H M
authors: HM
authors: Yaish
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D000080984:Congenital Bone Marrow Failure Syndromes; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007441:Intubation, Gastrointestinal; D010641:Phenotype; D040081:Protein Array Analysis; D013921:Thrombocytopenia / Q000150:complications / Q000235:genetics*
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human