ERCC6L2-associated inherited bone marrow failure syndrome.

ABSTRACT:

Background

ERCC6L2-associated disorder has recently been described and only five patients were reported so far. The described phenotype included bone marrow, cerebral, and craniofacial abnormalities. The aim of this study was to further define the genetic and phenotypic spectrum of the disorder by summarizing the five published cases and an additional case that we identified through whole-exome sequencing performed at the University of Toronto.

Methods

Clinical data was extracted from the Canadian Inherited Marrow Failure Registry. Whole exome sequencing was performed to identify causative mutations.

Results

All six cases had homozygous truncating mutations either at or upstream of the helicase domain of ERCC6L2. All patients displayed bone marrow failure, learning or

SUBMITTER: Shabanova I 

PROVIDER: S-EPMC6014454 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature