SI-137, 138, 139, 140, 141, 235, 315: (NF1) Neurofibromatosis Type I
• Cell line states:
o SI-137, 138, 139, 140, 141: affected (Exon 29 TGG-TGA)
o SI-235: affected (N/c.750-751 insT)
o SI-315: affected (R19 47X/N)
• Defects in NF1 cause neurofibromatosis, an autosomal dominant disorder characterized particularly by cafe-au-lait spots and fibromatous tumors of the skin. Other features are variably present. Some patients with homozygous or compound heterozygous mutations in mismatch repair genes have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots: see the mismatch repair cancer syndrome, sometimes referred to as brain tumor-polyposis syndrome 1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.