Brems, H., Chmara, M., Sahbatou, M., Denayer, E., Taniguchi, K., Kato, R., Somers, R., Messiaen, L., De Schepper, S., Fryns, JP., Cools, J., Marynen, P., Thomas, G., Yoshimura, A. and Legius, E. (2007) Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nature Genetics, 39, 1120-1126. doi:10.1038/ng2113

has been cited by the following article:

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

  AUTHORS: Dongdong Zheng, Xiaohong Duan

  KEYWORDS: Legius Syndrome; Neurofibromatosis Type I

  JOURNAL NAME: Case Reports in Clinical Medicine, Vol.2 No.2, May 24, 2013

  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.