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Sperm mutations in autism

Posted by RAJensen on 29 Oct 2011 at 12:27 GMT

All males can generate sperm mutations. Molina et al (2011) examined the frequncy of sperm mutations in volunteer sperm
donors. The study focused on three mutations that are associated with genetic syndromes with high rates of co-occuring autism: 7q11.23 (Williams Syndrome), 15q11-q13 (Prader-Willi Syndrome), and 22q11.2 (DiGeorge Velo-Cardio-Facial Syndrome). Almost all cases of these three genetic syndromes are caused by do novo mutations in contrast to being inherited events. A minimum of 10,000 sperm were assessed for each donor. Mutations were sporadically found in the volunteer donors.

Much larger groups of volunteer sperm donors are required to replicate these findings and to determine if the frequency of the sperm mutations increases with advancing paternal age.


Molina O, Anton E, Vidal F, Blanco J.(2011). Hum Genet. Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach. 2011 Jan;129(1):35-44. Epub 2010 Oct 8.

No competing interests declared.