This study describes, for the first time, a thorough genetic investigation in Israeli Arab homocystinuric patients. By using a DGGE methodology and sequencing we were able to identify the disease causing mutation in all. Of the mutations that were detected, two are novel: a 785C>G transversion in exon 7 (T262R) and a 5-bp deletion in the 5' of IVS17 including the T in the +2 position that is crucial for correct splicing (g18327-18331del5). In spite of the highly consanguineous nature of this population several different mutations were found. This may suggest that the mutations arose only recently in the population. The results of our study would enable early prenatal diagnosis, genetic counseling and screening for the mutations in population at risk. Hum Mutat 16:372, 2000.
Copyright 2000 Wiley-Liss, Inc.