Patient History Of The G242r Mutation

One patient, a 4-month old Danish boy, is previously described as case 1.21 This patient died suddenly at the age of four months and was characterized as a borderline SIDS. P-Oxidation activity in fibroblasts was decreased relative to controls, but was nevertheless higher than levels usually observed for MCAD patients.

All exons of the MCAD gene from this patient's genomic DNA were amplified and sequenced as previously described.11 No changes other than heterozygosity for the G799A mutation in exon 9, corresponding to the G242R change in the protein, were observed in the genomic DNA from this patient. The only known gross rearrangement in the MCAD gene, a deletion involving exons 11 and 12,22 was excluded on the basis that both patients were heterozygous for the 1161A > G polymorphism.23 In conclusion, our results strongly suggest that this patient is only heterozygous for the G242R mutation, and has no other disease-causing mutations in the MCAd gene.

0 0

Post a comment