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© 1994 Oxford University Press

OTHER

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy

Victor Ionasescu*, Charles Searby and Rebecca Ionasescu

Division of Medical Genetics, Department of Pediatncs, University of Iowa Hospitals and Clinics lowa City, IA 52242, USA

*To whom correspondence should be addressed

Received November 17, 1993; Revised January 3, 1994; Accepted January 3, 1994

Ten families with X-linked dominant CMT neuropathy (CMTX1) were screened for point mutations of the connexin32 (Cx32, GJB1) gene. Two families showed missense mutations, respectively an A<-G transition at amino acid 102 (glutamate to glycine) and a C<-T transition at amino acid 142 (arginine to tryptophan). Three families showed nonsense mutations, respectively a C<-T transition at amino acid 22 (arginine to stop), a G<-T transversion at amino acid 186 (glutamate to stop), and a T<-A transversion at amino acid 217 (cystelne to stop). Five CMTX1 neuropathy families showed no evidence of point mutations of the connexin32 coding sequence. These findings suggest that the CMTX1 neuropathy genotype is heterogeneous or the result of promoter mutations, 3'-untranslated region mutations or exon/intron splice site mutations. Four of the reported mutations created or destroyed restriction enzyme sites: a Haelll restriction enzyme site was destroyed by the mutation at amino acid position 22, a Hpall site was eliminated at amino acid position 142, a Bfal restriction site was created by the mutation at amino acid 186 and a Ddel restriction site was created by the mutation at amino acid 217. These changes allowed us to test family members for the mutations and observe the segregation of the disease with the mutations.


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