De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia

Summary 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...

Full description

Saved in:
Bibliographic Details
Published inBritish journal of haematology Vol. 199; no. 5; pp. 739 - 743
Main Authors Vial, Yoann, Lainey, Elodie, Leblanc, Thierry, Baudouin, Véronique, Dourthe, Marie Emilie, Gressens, Pierre, Verloes, Alain, Cavé, Hélène, Drunat, Séverine
Format Journal Article
LanguageEnglish
Published Oxford Blackwell Publishing Ltd 01.12.2022
Subjects
Bone growth
Bone marrow
bone marrow failure
development
genetic disorders
Growth rate
Hematology
Hypoplasia
Microencephaly
Mitosis
molecular genetics
Neurogenesis
Renal failure
Online AccessGet full text

Cover

More Information
Summary:Summary 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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0007-1048
1365-2141
DOI:10.1111/bjh.18461