De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia.
Br J Haematol
; 199(5): 739-743, 2022 12.
Article
en En
| MEDLINE
| ID: mdl-36111525
ABSTRACT
In a patient with severe microcephaly, congenital bone marrow failure, growth retardation, and renal hypoplasia, we identified a likely pathogenic variant in NUF2 that impairs the cell's ability to properly complete mitosis. Interestingly, these clinical features as well as the observed cellular alterations are highly reminiscent of what is reported in Fanconi Anaemia supporting a unifying causal role of the variant in the disease. This case provides the first evidence that a kinetochore defect, previously associated with microcephaly, can be responsible for an inherited bone marrow failure syndrome, highlighting the unique pathological link between neurogenesis and haematopoiesis.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Anemia de Fanconi
/
Microcefalia
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Br J Haematol
Año:
2022
Tipo del documento:
Article
País de afiliación:
Francia