A girl with fragile X premutation from sperm donation.
We present a girl with the fragile X premutation who obtained the premutation allele from donated sperm. Our patient has clinical characteristics of fragile X syndrome including emotional problems and neuropsychological difficulties presenting as learning disabilities. She is also at high risk for premature ovarian failure and low risk for the fragile X-associated tremor ataxia (FXTAS). We suggest fragile X DNA screening in gamete donor candidates to decrease the chance of fragile X involvement in their offspring.
Wirojanan
Juthamas
J
MIND Institute, University of California-Davis Medical Center, Sacramento, California 95817, USA.
Angkustsiri
Kathleen
K
Tassone
Flora
F
Gane
Louise W
LW
Hagerman
Randi J
RJ
D002648:Child; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D013094:Spermatozoa; D014019:Tissue Donors
D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human