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

Dongdong Zheng, Xiaohong Duan

Department of Oral Biology, Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi’an, China.

DOI: 10.4236/crcm.2013.22038                

Abstract

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 1—like syndrome” to describe those patients just like our patient reported here.

Keywords

Legius Syndrome; Neurofibromatosis Type I

Conflicts of Interest

The authors declare no conflicts of interest.

References

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