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Whole genome sequence analyses revealed potential causative mutations in 15 different genes, of which 4 were consistently and uniquely associated with the phenotype in all 7 affected family members, also confirmed by genetic linkage analysis. Of the 4 genes, which are present in a centromeric region of chromosome 1, <jats:italic><jats:styled-content style=\"fixed-case\">ASH<\/jats:styled-content>1L<\/jats:italic> was proposed as causative through functional <jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content> knock\u2010down and chromatin\u2010immunoprecipitation studies in human erythroid progenitor cells. 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