ONLINE MUTATION REPORT Searching for genomic variants in the MESTIT1 transcript in Silver-Russell syndrome patients

Silver-Russell syndrome 1 2 is a malformation syndrome characterised by a severe reduction in weight and length at birth, short stature in later life, asymmetry of the head and limbs, and other less constant abnormalities.3 Typical craniofacial abnormalities include a relatively large, promi-nent forehead and a small triangular face. The aetiology of the disease is heterogeneous. However, in approximately 7-10 % of cases maternal uniparental disomy (UPD) of chromosome 7 can be detected.4 Additionally, Hannula et al5 have reported a SRS patient with a segmental maternal UPD(7) restricted to 7q31-qter. The finding of maternal UPD(7) in SRS indicates that either mutations in imprinted genes on chromosome 7 or imprinting mutations are responsible for the SRS phenotype in at least some patients