Evaluation of a novel molecular TP-PCR technique for its diagnostic performance in myotonic dystrophy type 1 (dm1): a case series.

Author(s): Ashok Kumar, Srinivasan M., Sarita Agarwal*

Abstract

Myotonic Dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disorder occurred due to an expanded number of CTG repeats in the 3′ UTR of dystrophia myotonica protein kinase (DMPK) gene with an incidence of ~1 in 7500 adults. The number of repeats varies in normal population from 5-34 repeats and to > 40 repeats in affected individuals. The intention of the present case report is the evaluation of Triplet Primed PCR (TP-PCR) analysis which is a robust, rapid and non-radioactive technique in clinical application. The present study reports the CTG repeat pattern of three cases of DM1 patients and their family members. All 3 cases were provisionally diagnosed as DM1 and later were confirmed for expanded CTG repeats by TP-PCR. The reports confirm that TP-PCR could be successfully used for the identification of CTG repeat expansion in DM1. However, detailed clinical workups along with molecular diagnosis are needed to establish the genetic counseling and prenatal diagnostic clinics.

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