ena-STUDY-CEITEC, MASARYK UNIVERSITY-23-11-2018-14:43:31:201-373
The first evidence of a Cornelia de Lange Syndrome patient with a novel cohesin mutation and Acute Lymphoblastic Leukemia
Cornelia de Lange Syndrome (CdLS) is a rare autosomal dominant genetic disorder characterized by pre- and post-natal growth and mental retardation. Germline mutations of cohesin complex genes SMC1A, SMC3, RAD21 or their regulators NIPBL and HDAC8 have been identified in CdLS, as well as somatic mutations in myeloid disorders. We describe the first case of a CdLS pediatric patient who developed B-cell precursor Acute Lymphoblastic Leukemia. By NGS, we identified a novel de novo heterozygous mutation in exon 46 of NIPBL, causing a frameshift and premature stop codon. A potential biological role of NIPBL in leukemia has still to be dissected.
Cornelia de Lange Syndrome (CdLS) is a rare autosomal dominant genetic disorder characterized by pre- and post-natal growth and mental retardation. Germline mutations of cohesin complex genes SMC1A, SMC3, RAD21 or their regulators NIPBL and HDAC8 have been identified in CdLS, as well as somatic mutations in myeloid disorders. We describe the first case of a CdLS pediatric patient who developed B-cell precursor Acute Lymphoblastic Leukemia. By NGS, we identified a novel de novo heterozygous mutation in exon 46 of NIPBL, causing a frameshift and premature stop codon. A potential biological role of NIPBL in leukemia has still to be dissected.