Mosaic Deletion of the NF1 Gene in a Patient With Cognitive Disability and Dysmorphic Features But Without Diagnostic Features of NF1

摘要

TO THE EDITOR; We report on an 18-year-old man who vividly illustrates the diagnostic conundrums new genetic testing technology can generate. Following referral to clinical genetics, microarray analysis identified a de novo 2.8 Mb deletion on chromosome 17q11.2, including the entire NF1 gene, yet he does not meet diagnostic criteria for neurofibromatosis type 1 (NF1). To our knowledge this is the first reported case of a patient with an NF1 gene deletion, ascertained unexpectedly with no family history and without diagnostic features.