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Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene
Author(s) -
Järviaho T.,
Halt K.,
Hirvikoski P.,
Moilanen J.,
Möttönen M.,
Niinimäki R.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13125
Subject(s) - frameshift mutation , bone marrow failure , bone marrow , microcephaly , mutation , genetics , biology , gene , haematopoiesis , cancer research , medicine , immunology , stem cell
Inherited bone marrow failure syndromes ( IBMFS ) are group of disorders that lead to inadequate production of blood cells. Mutations in genes involved in telomere maintenance, DNA repair, and the cell cycle cause IBMFS . ERCC6L2 gene mutations have been associated with bone marrow failure that includes developmental delay and microcephaly. We report 2 cases of bone marrow failure with no extra‐hematopoietic manifestations in patients from unrelated families with a homozygous truncating mutation in ERCC6L2 . Bone marrow failure without developmental delay or microcephaly with ERCC6L2 mutation has not been previously described.