Somatic Mutation Analysis in NF1 Café au lait Spots Reveals Two NF1 Hits in the Melanocytes

Molecular screening strategies for NF1-like syndromes with café-au-lait macules

Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto‑oncogene receptor tyrosine kinase and Ras/mitogen‑activated protein kinase...

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 t...

A child with axillary freckling and café au lait spots.

Pulmonary stenosis, café-au-lait spots, and dull intelligence.

Of the many abnormalities that have been reported in association with multiple caf&-au-lait spots, congenital cardiac anomalies are extremely rare. The purpose of this paper is to report three families in which there were children with pulmonary valvular stenosis, who were mentally dull and also had cafe-au-lait spots inherited as an autosomal dominant, as in von Recklinghausen's disease (VRD)....

Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia

Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder, manifested with neurofibromas and Cafe´-au-lait spots. Germline mutations in NF1 gene are associated with Neurofibromatosis type 1. NF1 gene encodes neurofibromin, a RAS-specific GTPase activating protein. In our study, we present a clinical molecular study of four Chinese probands with NF1 from four...