A novel MECOM variant associated with congenital amegakaryocytic thrombocytopenia and radioulnar synostosis

Hanan Al-Abboh¹, Akmal Zahra¹, Adekunle Adekile^{1

2}

Affiliations

¹ Pediatric Hematology Unit, Mubarak Hospital, Al-Jabiriyah, Kuwait.
² Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.

Hanan Al-Abboh et al. Pediatr Blood Cancer. 2022 Dec.

. 2022 Dec;69(12):e29761.

doi: 10.1002/pbc.29761. Epub 2022 Apr 29.

Hanan Al-Abboh¹, Akmal Zahra¹, Adekunle Adekile^{1

2}

¹ Pediatric Hematology Unit, Mubarak Hospital, Al-Jabiriyah, Kuwait.
² Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.

No abstract available

References

1. Rizzo 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.
1. Walne 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.
1. Dokal 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.
1. Thompson AA, Nguyen LT. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet. 2000;26(4):397-398.
1. Germeshausen 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.