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


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 substitution of a glutamic acid (GAG) with a terminator codon (TAG). For those patients with only multiple café au lait macules, axillary and inguinal freckling, but without any other clinical signs in NF1 and Legius syndrome, a gene testing is necessary to give a final diagnose. We suggested to use “Neurofibromatosis type 1like syndrome” to describe those patients just like our patient reported here.

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Zheng, D. and Duan, X. (2013) A novel mutation in NF1 gene in a Chinese patient with Legius syndrome like café au lait spots. Case Reports in Clinical Medicine, 2, 141-142. doi: 10.4236/crcm.2013.22038.

Conflicts of Interest

The authors declare no conflicts of interest.


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