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To the Editor:
We read with interest the article by Scheid et al.1 in which a cysteine-sparing mutation (A1020P) in the NOTCH3 gene in association with a cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)–compatible phenotype in two German families was reported.
Several cysteine-sparing mutations have been previously reported associated with CADASIL, including a deletion in exon 3 and a missense mutation in exon 25, but none of them was described as polymorphism or even as single nucleotide polymorphism (SNP).2,3 The concern about the role of A1020P in developing CADASIL arises from four main observations.
First, A1020P is classified as SNP, with the reference number rs35769976, and it can be found in SNPs databases in which the allele frequencies for different populations are reported. Second, we found this polymorphism in 3 of 50 control subjects, in accordance with the frequency reported in the European population. Third, we found the A1020P variation in two twins with CADASIL carrying a classical cysteine-involving mutation (G528C) (unpublished results). Finally, the same authors observed that the maternal uncle of patient 1 carried the above-mentioned polymorphism without any significant signs of CADASIL.
These observations cast doubt on the role of A1020P polymorphism in determining the CADASIL phenotype. The authors also found …
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