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Online mutation report
Searching for genomic variants in the MESTIT1 transcript in Silver-Russell syndrome patients
  1. E Meyer1,
  2. H A Wollmann2,
  3. T Eggermann1
  1. 1Institute of Human Genetics, University Hospital, Aachen, Germany
  2. 2Children’s Hospital, University of Tübingen, Germany
  1. Correspondence to:
 Dr T Eggermann, Institute of Human Genetics, RWTH Aachen, Pauwelsstrasse 30, D-52074 Aachen, Germany; 
 teggermann{at}ukaachen.de

https://doi.org/10.1136/jmg.40.5.e65

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    Silver-Russell syndrome1,2 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, prominent 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.

    So far, three imprinted loci have been identified on chromosome 7: growth factor receptor protein 10 (GRB10) in 7p12,6 paternally expressed gene 10 (PEG10) and epsilon-sarcoglycan (SGCE) in 7q21,7 and the mesoderm specific transcript (MEST) in 7q32.8 Owing to their role in human growth, their genomic localisation, and their imprinting status, GRB10 and MEST have been exhaustively studied by several groups for mutations in …

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