Neurofibromatosis type 1 (NF1)

Record number: 
Adverse Occurrence type: 
MPHO Type: 
Alerting signals, symptoms, evidence of occurrence: 
Birth of 5 newborns with Neurofibromatosis type 1 (NF 1) following sperm donation
Demonstration of imputability or root cause: 
Thorough genetic analysis of the donor sperm demonstrated an intragenic deletion spanning exon 11-23.1 in the NF1 gene and revealed a germ line mosaicism of approximately 20% (3). In a letter to the involved Danish fertility clinics the involved cryobank informed of an expected risk of 10-20 % for NF1 inheritance among the donor offspring