In the original MB-DRM German family , we demonstrated a linkage of the disease to the SEPN1 locus ( 1p36 ) , and subsequently a homozygous SEPN1 deletion ( del 92 nucleotide -19/+73 ) in the affected patients .
O O O I-DiseaseOrPhenotypicFeature O O O O O O O O O O O O B-GeneOrGeneProduct O O O O O O O O O B-GeneOrGeneProduct O O B-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant O O O O B-OrganismTaxon O