Gonosomal mosaicism for an NF1 deletion in a sperm donor: Evidence of the need for coordinated, long-term communication of health information among relevant parties

Academic Article


  • Background Screening of gamete donors can reduce but cannot eliminate the risks for medical problems in donor-conceived offspring. We present a case of gonosomal mosaicism discovered in an anonymous sperm donor after receiving two reports of neurofibromatosis type 1 (NF1) in donor-conceived offspring, to illustrate that long-term, systematic investigation of health issues in donors and offspring can be invaluable to the welfare of these individuals.Methods A repeat physical evaluation and ophthalmology examination were performed on the donor. DNA samples were examined by RTPCR fragment analysis, multiplex ligation-dependent probe amplification (MLPA) and targeted array-comparative genomic hybridization (aCGH). Results Gonosomal mosaicism for a deletion mutation in the NF1 gene was identified in 20 of sperm and a smaller percentage of lymphocytes. Conclusion s Long-term communication of medical information among donors, recipients and donor-conceived offspring is beneficial for the health management of all parties. Development of a secure, coordinated data system is critical to achieving this goal. Recommendations are provided for management and communication of critical information based on this experience. © 2012 The Author.
  • Published In

  • Human Reproduction  Journal
  • Digital Object Identifier (doi)

    Author List

  • Callum P; Messiaen LM; Bower PV; Skovby F; Iger J; Timshel S; Sims CA; Falk RE
  • Start Page

  • 1223
  • End Page

  • 1226
  • Volume

  • 27
  • Issue

  • 4