METHODS FOR RAPID DETECTION OF A RECURRENT NONSENSE MUTATION AND DOCUMENTATION OF PHENOTYPIC FEATURES IN NEUROFIBROMATOSIS TYPE-1 PATIENTS

We have developed a rapid screening method to detect a recurrent mutat ion in the neurofibromatosis type 1 gene. Using gene amplification and hybridization with allele specific oligonucleotides, we screened 97 u nrelated affected individuals for the recurrent C-->T substitution in codon 1947. The mutation was detected in I patient and found to cosegr egate with the disease phenotype in the patient's family. Although the estimated prevalence of this mutation is low, rapid screening of diff erent patient cohorts would identify multiple individuals carrying the same mutation. Such data would provide the first opportunity for exam ining correlations between phenotypic characteristics and molecular ge notype and would allow clinicians to offer early diagnosis and prenata l screening to affected families. A format for the comparison of pheno typic features in other settings is presented. (C) 1995 Wiley Liss, In c.