CRCM  Vol.2 No.2 , May 2013
A novel mutation in NF1 gene in a Chinese patient with Legius syndrome like café au lait spots
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 1like syndrome” to describe those patients just like our patient reported here.


Cite this paper
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.
References
[1]   Pasmant, E., Sabbagh, A., Hanna, N., Masliah-Planchon, J., Jolly, E., Goussard, P., Ballerini, P., Cartault, F., Barbarot, S., Landman-Parker, J., Soufir, N., Parfait, B., Vidaud, M., Wolkenstein, P., Vidaud, D. and France, R.N. (2009) SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. Journal of Medical Genetics, 46, 425-430. doi:10.1136/jmg.2008.065243

[2]   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

[3]   Muram-Zborovski, T.M., Vaughn, C.P., Viskochil, D.H., Hanson, H., Mao, R. and Stevenson, D.A. (2010) NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1. Journal of Medical Genetics, 152, 1973-1978.

[4]   Muram-Zborovski, T.M., Stevenson, D.A., Viskochil, D.H., Dries, D.C., Wilson, A.R. and Rong, M. (2010) SPRED 1 mutations in a neurofibromatosis clinic. Journal of Child Neurology, 25, 1203-1209. doi:10.1177/0883073809359540

[5]   Messiaen, L., Yao, S., Brems, H., Callens, T., Sathienkijkanchai, A., Denayer, E., Spencer, E., Arn, P., Babovic-Vuksanovic, D., Bay, C., Bobele, G., Cohen, B.H., Escobar, L., Eunpu, D., Grebe, T., Greenstein, R., Hachen, R., Irons, M., Kronn, D., Lemire, E., Leppig, K., Lim, C., McDonald, M., Narayanan, V., Pearn, A., Pedersen, R., Powell, B., Shapiro, L.R., Skidmore, D., Tegay, D., Thiese, H., Zackai, E.H., Vijzelaar, R., Taniguchi, K., Ayada, T., Okamoto, F., Yoshimura, A., Parret, A., Korf, B. and Legius, E. (2009) Clinical and mutational spectrum of neurofibromatosis type1-like syndrome. JAMA, 302, 2111-2118. doi:10.1001/jama.2009.1663

 
 
Top