Deletion of the entireNF1 gene detected by FISH: Four deletion patients associated with severe manifestations

✍ Scribed by Wu, Bai-Lin ;Austin, Michele A. ;Schneider, Gretchen H. ;Boles, Richard G. ;Korf, Bruce R.

• Publisher: John Wiley and Sons
• Year: 1995
• Tongue: English
• Weight: 646 KB
• Volume: 59
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320590427

✦ Synopsis

Genetic analysis of N F I has indicated a wide diversity of mutations, including chromosome rearrangements, deletions, insertions, duplications, and point mutations. Recently, five severely affected individuals have been found by Kayes et al. [1994] to have deletions encompassing the entire gene. These deletions were detected by quantitative Southern analysis. To simplify deletion detection, we have employed fluorescence in situ hybridization (FISH) using intragenic probes. Thirteen unrelated individuals with NFI have been studied. Among six with severe manifestations, four have been found to have deletions detected by probes cFF13, cFBSD, cP5, yA43A9, yA113D7 and yDSF4. All four deletion patients have severe developmental delay, minor and major anomalies (including one with bilateral iris colobomas), a n d multiple cutaneous neurofibromas or plexiform neurofibromas which were present before age 5 years. FISH provides a simple and rapid means of identification of N F l gene deletions and will allow more rigorous testing of the hypothesis that such deletions are associated with severe manifestations.