We are currently writing a follow-up MC3R paper where we have found and characterised LoF MC3R coding mutations in cohorts of patients with delayed puberty, in collaboration with Dr Yee-Ming Chan, a member of the Delayed Puberty Genetics Consortium based in Boston, and Prof Peter Clayton from Manchester University. 
 
We have found 3/268 heterozygous individuals total in these cohorts carrying LoF MC3R mutations and we have compared this to the number of individuals in ALSPAC carrying both partial or complete LoF MC3R mutations, to see if there is any enrichment in the delayed puberty cohorts compared to ALSPAC as a control cohort.
 
We currently have an estimate (from previous sequence data in ALSPAC) of the number of carriers in ALSPAC for the pLoF R220S mutation - 29 het individuals - based on the frequency of coverage of this variant within the pooled target capture sequencing data performed for MC3R. However as we never broke these pools we do not have a validated number of carriers for this variant (chr20_56249501_C_A).