Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2

Neurofibromatosis type 1 (NF1[MIM 162200]) is a common autosomal dominant disorder that affects 1/3500 individuals and is caused by deletion or point mutations of NF1, a tumour suppressor gene mapping to 17q11.2. The only published comparative study concerned a single clinical sign (the development of an MPNST), for which a correlation between NF1 microdeletion and a high risk for this tumour was observed. 1 Our aims in the present study were, first, to verify whether the incidence of specific clinical signs is different in NF1 microdeleted and general NF1 patients; and second, to indicate possible correlations between the onset of distinct clinical features and the haploinsufficiency of specific genes involved in the deletions.