Glomus tumours and genomic imprinting: Influence of inheritance along the paternal or maternal line

Two new families with glomus tumours and two additions to earlier publications are presented. The pattern of inheritance is autosomal dominant. Familial glomus tumours are inherited almost exclusively via the paternal line, a finding inconsistent with autosomal dominant transmission. This can be explained by genomic imprinting. The maternally derived gene is inactivated during female oogenesis and can be reactivated only during spermatogenesis. Two different loci have been assigned, one to a 5 cM region of chromosome 11q13.1 and one to 11q22.3-q23.3. Genomic imprinting has already been found for the distal locus and here we demonstrate that the proximal locus is subject to genomic imprinting too. Genomic imprinting has considerable implications for genetic counselling in families with glomus tumours. In addition to this the sex ratio among affected offspring appears to be influenced by the paternal or maternal origin of the gene of the transmitting father.