Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 2.

ABSTRACT:

Background

Myotonic dystrophy type 2 (DM2) is caused by a CCTG repeat expansion in intron 1 of the CCHC-Type Zinc Finger Nucleic Acid Binding Protein (CNBP) gene. Previous studies indicated that this repeat expansion originates from separate founders.

Objective

This study was set out to determine whether or not patients with DM2 originating from European and non-European countries carry the previously described European founder haplotypes.

Methods

Haplotype analysis was performed in 59 DM2 patients from 29 unrelated families. Twenty-three families were from European descent and 6 families originated from non-European countries (India, Suriname and Morocco). Seven short tandem repeats (CL3N122, CL3N99, CL3N59, CL3N117, CL3N119, CL3N19 and CL3N23) and 4 single nucleotid

SUBMITTER: Damen M 

PROVIDER: S-EPMC9789478 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature