Ontology highlight
ABSTRACT:
SUBMITTER: Shah S
PROVIDER: S-EPMC3919799 | biostudies-literature | 2013 Oct
REPOSITORIES: biostudies-literature
Nature genetics 20130908 10
Somatic alterations of the lymphoid transcription factor gene PAX5 (also known as BSAP) are a hallmark of B cell precursor acute lymphoblastic leukemia (B-ALL), but inherited mutations of PAX5 have not previously been described. Here we report a new heterozygous germline variant, c.547G>A (p.Gly183Ser), affecting the octapeptide domain of PAX5 that was found to segregate with disease in two unrelated kindreds with autosomal dominant B-ALL. Leukemic cells from all affected individuals in both fam ...[more]