¹Action Research Laboratory for the Molecular Biology of Fetal Development, Division of Paediatrics, Obstetrics and Gynaecology, Imperial College School of Medicine, Queen Charlotte's and Chelsea Hospital, London, UK

²Institute of Child Health, University of London, UK

^aCorrespondence: Dr E Wakeling, Action Research Laboratory for the Molecular Biology of Fetal Development, Division of Paediatrics, Obstetrics and Gynaecology, Imperial College School of Medicine, Queen Charlotte's and Chelsea Hospital, Goldhawk Road, London W6 0XG, UK. Fax: +44 181 383 1838; Tel: +44 181 383 3533;E-mail: e.wakeling@rpms.ac.uk

Maternal uniparental disomy of chromosome 7 (mUPD7) has been reported in around 10% of cases of Silver-Russell syndrome (SRS). This suggests that at least one gene on chromosome 7 is imprinted and involved in the pathogenesis of this condition. One candidate is epidermal growth factor receptor (EGFR) which maps to chromosome 7p12, a region homologous to an imprinted region on mouse chromosome 11. Using a restriction fragment length polymorphism, biallelic expression of EGFR was found in a range of normal human fetal tissues. Expression was also demonstrated in fibroblasts and lymphoblasts from SRS patients with mUPD7. Thus no evidence that EGFR is imprinted was found, making its involvement in SRS unlikely. However, EGFR was shown to be widely expressed in the human fetus, evidence that this gene plays an important role in early development.

epidermal growth factor receptor; Silver-Russell syndrome; maternal uniparental disomy; imprinting; fetal expression