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PubMed ID | Description |
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1757093 | Estivill et al (1991) analyzed exon 4 of the NF1 gene in 38 patients with NF1. In one patient, they found a de novo nonsense mutation (R365X). Other groups also reported this mutation in NF1 patients. |
1302608 | Upadhyaya et al. (1992) analyzed the NF1 gene in 200 patients with NF1. They found multiple mutations, including a single bp insertion resulting in a frameshift and premature stop codon in two unrelated patients. |
See Gene Reviews for additional mutations. |
Mutations and deletions of NF1 are associated with neurofibromatosis 1.
Moles et al. (2012) (PMID 22241097) reported 7 individuals with microduplications involving NF1 (along with several other genes). The phenotypes of the patients are variable, including DD/ID and seizures. These duplications are mediated by NAHR and have been reported by another group (Grisart 2008 EJHG). The microduplication region is ~1.4 Mb and includes at least 10 genes.