ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome. (19th May 2019)

• Record Type: Journal Article
• Authors: Srinath, Meghna; Coberly, Emily; Ebersol, Kimberly; Binz, Kirstin; Laziuk, Katsiaryna; Gunning, William T.; Gruner, Barbara; Hammer, Richard; Sathi, Bindu Kanathezhath
• Is Part Of: Pediatric hematology and oncology. Volume 36:Number 4(2019)
• Page Start: 236
• Page End: 243
• Publication Date: 2019-05-19
• Subjects: Down syndrome -- myelodysplastic syndrome -- refractory macrocytic anemia -- spliceosomal mutation -- ZRSR2; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Hematologic Diseases -- Child; Hematologic Diseases -- Infant; Neoplasms -- Child; 618.9215
• DOI: 10.1080/08880018.2019.1621969
• Languages: English
• ISSNs: 0888-0018

Abstract

Abstract: Here we report a case of refractory macrocytic anemia with a spliceosomal point mutation involving the ZRSR2 gene in a child with Down syndrome (DS). Such mutations have been shown to cause refractory macrocytic anemia and myelodysplastic syndrome (MDS) in elderly individuals. We report the hematological indices of a child with DS and a ZRSR2 spliceosomal mutation. DS is known to produce macrocytic anemia but does not lead to transfusion dependence. In this case, the ZRSR2 mutation was the likely implicating factor for severe transfusion-dependent anemia in a child with DS. The clinical implication of a ZRSR2 mutation in a child with DS has not been previously described and warrants close surveillance to detect potential insidious transformation to MDS.