A novel mutation in &amp;lt;i&amp;gt;NF1&amp;lt;/i&amp;gt; gene in a Chinese patient with Legius syndrome like caf&amp;#233; au lait spots

Dongdong Zheng,Xiaohong Duan

doi:10.4236/crcm.2013.22038

Abstract

Neurofibromatosis type I (NF1) (OMIM, 162200) and Legius syndrome (OMIM, 611431) both have multiple cafe 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 cafe 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.

Highlights

Legius syndrome (Online Mendelian Inheritance in Man (OMIM), 611431) is an autosomal dominant genetic disorder presenting mainly with café au lait macules (CALMs), axillary freckling, and macrocephaly
Since Legius syndrome and NF1 have the similar clinical phenotypes, neurofibromin 1 (NF1) gene, the candidate gene of NF1, was detected and the final gene mutation analysis revealed that the patient had a novel mutation in NF1 exon1 (c.55G > T)
Due to the hard clinical differential diagnosis between NF1 and Legius syndrome, we suggested to use “Neurofibromatosis Type 1-like Syndrome” to describe those patients with only multiple café au lait macules, axillary and inguinal freckling, but without any other clinical signs in NF1 and Legius syndrome, just like our patient reported here

Summary

INTRODUCTION

Legius syndrome (Online Mendelian Inheritance in Man (OMIM), 611431) is an autosomal dominant genetic disorder presenting mainly with café au lait macules (CALMs), axillary freckling, and macrocephaly. The inactivating sprouty-related EVH1 domain containing protein 1 (SPRED1) mutations have recently been described in Legius syndrome [1,2]. Multiple café au lait spots are the identical cutaneous phenotype in both Legius syndrome and neurofibromatosis type I (NF1) (OMIM, 162200) and the differential diagnosis of these two disorders are very challenging. We report a Legius syndrome-like patient who was identified as NF1

CASE REPORT

DISCUSSION

CONCLUSION