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Sequencing of cDNA and genomic DNA yielded identification of 10 different mutations, including four splicing errors, three small deletions, two nonsense mutations, and one small insertion. Nine mutations were predicted to cause premature termination of translation, while one mutation caused in frame deletion as a result ofexon skipping. In one other case involving abnormal splicing, five different aberrantly spliced transcripts were detected. One germline nonsense mutation (R1306X, 3916C&gt;T) corresponded to the same base change that occurs by mRNA editing in normal subjects. The second nonsense mutation (R2496X) was the sole germline mutation that has been previously described. The subjects studied represented typically affected NF1 patients and no correlations between genotype and phenotype were apparent. A high incidence of ocular hypertelorism was observed.<\/jats:p>","DOI":"10.1136\/jmg.35.10.813","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"813-820","source":"Crossref","is-referenced-by-count":52,"title":["Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients."],"prefix":"10.1136","volume":"35","author":[{"given":"V M","family":"Park","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E K","family":"Pivnick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1001\/jama.1997.03550010065042","article-title":"The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2","volume":"278","author":"Gutmann, D.H.; Aylsworth, A.; Carey, J.C.","year":"1997","unstructured":"Gutmann DH, Aylsworth A, Carey JC, et al. 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