Start SPRED-ing the News: A Neurofibromatosis-like Disorder

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by multiple café-au-lait macules (CALMs), soft cutaneous neurofibromas, axillary freckling, Lisch nodules, and other, rarer internal malignancies. NF1 is caused by inactivating mutations in neurofibromin (encoded by the NF1 gene), a negative regulator of RAS signaling.

Investigators in Belgium recently identified five families with NF1-like phenotypes, including multiple CALMs, axillary freckling, macrocephaly, and a Noonan syndrome–like dysmorphology. Molecular analysis of NF1 and linkage analysis of the families excluded NF1 as the causative gene. A genome-wide scan detected a possible locus on chromosome 15 in a region encompassing the SPRED1 gene. Sequence ana…