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.
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.


CONCLUSIONS
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.
California Cryobank, Los Angeles, CA 90025, USA. pcallum@cryobank.com
P
P
Callum
L M
LM
Messiaen
P V
PV
Bower
F
F
Skovby
J
J
Iger
S
S
Timshel
C A
CA
Sims
R E
RE
Falk
D002140:California; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D008499:Medical Records; D009030:Mosaicism; D009456:Neurofibromatosis 1 / Q000235:genetics*; D018570:Risk Assessment; D017384:Sequence Deletion; D013094:Spermatozoa; D014019:Tissue Donors