A novel MECOM variant associated with congenital amegakaryocytic thrombocytopenia and radioulnar synostosis
Hanan Al-Abboh
Pediatric Hematology Unit, Mubarak Hospital, Al-Jabiriyah, Kuwait
Search for more papers by this authorAkmal Zahra
Pediatric Hematology Unit, Mubarak Hospital, Al-Jabiriyah, Kuwait
Search for more papers by this authorCorresponding Author
Adekunle Adekile
Pediatric Hematology Unit, Mubarak Hospital, Al-Jabiriyah, Kuwait
Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait
Correspondence
Adekunle Adekile, Department of Pediatrics, Faculty of Medicine, Kuwait University, PO Box 24923, Safat 13110, Kuwait.
Email: [email protected]
Search for more papers by this authorHanan Al-Abboh
Pediatric Hematology Unit, Mubarak Hospital, Al-Jabiriyah, Kuwait
Search for more papers by this authorAkmal Zahra
Pediatric Hematology Unit, Mubarak Hospital, Al-Jabiriyah, Kuwait
Search for more papers by this authorCorresponding Author
Adekunle Adekile
Pediatric Hematology Unit, Mubarak Hospital, Al-Jabiriyah, Kuwait
Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait
Correspondence
Adekunle Adekile, Department of Pediatrics, Faculty of Medicine, Kuwait University, PO Box 24923, Safat 13110, Kuwait.
Email: [email protected]
Search for more papers by this author
REFERENCES
- 1Rizzo R, Pavone V, Corsello G, Sorge G, Neri G, Opitz JM. Autosomal dominant and sporadic radio-ulnar synostosis. Am J Med Genet. 1997; 68(2): 127-134.
10.1002/(SICI)1096-8628(19970120)68:2<127::AID-AJMG2>3.0.CO;2-M CAS PubMed Web of Science® Google Scholar
- 2Walne A, Tummala H, Ellison A, et al. Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease. Haematologica. 2018; 103(7): e284-e287.
- 3Dokal I, Ganly P, Riebero I, et al. Late onset bone marrow failure associated with proximal fusion of radius and ulna: a new syndrome. Br J Haematol. 1989; 71(2): 277-280.
- 4Thompson AA, Nguyen LT. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet. 2000; 26(4): 397-398.
- 5Germeshausen M, Ancliff P, Estrada J, et al. MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia. Blood Adv. 2018; 2(6): 586-596.
- 6Ripperger T, Hofmann W, Koch JC, et al. MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies. Haematologica. 2018; 103(2):e55.
- 7Thompson AA, Woodruff K, Feig SA, Nguyen LT, Schanen NC. Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome. Br J Haematol. 2001; 113(4): 866-870.
- 8Niihori T, Ouchi-Uchiyama M, Sasahara Y, et al. Mutations in MECOM, encoding oncoprotein EVI1, cause radioulnar synostosis with amegakaryocytic thrombocytopenia. Am J Hum Genet. 2015; 97(6): 848-854.
- 9Nielsen M, Vermont CL, Aten E, et al. Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia. J Med Genet. 2012; 49(9): 598-600.
