Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family.

ABSTRACT: DM1 is an autosomal dominant multisystemic disease caused by an unstable CTG repeat expansion in the 3'-untranslated region (UTR) of the DMPK gene. The complex variant DMPK expanded the alleles containing CAG, CCG, CTC and/or GGC interruptions repetition sequences have been reported in 3-8% of DM1 patients. To date, very few information is available about the frequency and clinical consequences of pre-mutated DMPK variant allele. In this study, we describe a three-generation Italian family showing the segregation of an interrupted DMPK allele within the premutation range. TP-PCR with primers complementary to CCG repetitions and direct sequencing allow us to identify a hetero-triplet (CTG)₆(CCGCTG)₁₅(CTG)₅ repeat structure. The ha

SUBMITTER: Fontana L 

PROVIDER: S-EPMC7315898 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature