A novel mutation in NF1 gene in a Chinese patient with Legius syndrome like café au lait spots

bution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Neurofibromatosis type I (NF1) (OMIM, 162200) and Legius syndrome (OMIM, 611431) both have multiple café au lait spots. It is a challenge to differentiate the two diseases. Here we report a Legius syndrome-like patient who finally was identified as NF1 with a novel mutation in NF1 exon1 (c.55G> T). The mutation caused a sub-stitution of a glutamic acid (GAG) with a termi-nator codon (TAG). For those patients with only multiple café au lait macules, axillary and ingui-nal freckling, but without any other clinical signs in NF1 and Legius syndrome, a gene testing is necessary to give a final diagnose. We sug-gested to use “Neurofibromatosis type 1—like syndrome ” to describe those patients just like our patient reported here