Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism

• Published in: Neuropsychiatric disease and treatment Vol. 12; pp. 2367 - 2372
• Main Authors: Musova, Zuzana, Hancarova, Miroslava, Havlovicova, Marketa, Pourova, Radka, Hrdlicka, Michal, Kraus, Josef, Trkova, Marie, Stejskal, David, Sedlacek, Zdenek
• Format: Journal Article
• Language: English
• Published: New Zealand Dove Medical Press Limited 01.01.2016; Dove Medical Press
• Subjects: Analysis; Autism; Chromosomes; DMPK gene; Genetic aspects; Genetic disorders; genetic testing; Genomics; Health aspects; myotonic dystrophy type 1; Original Research; Single nucleotide polymorphisms; Twins; DMPK gene; comorbidity; genetic testing; myotonic dystrophy type 1; autism

Myotonic dystrophy type 1 (DM1) belongs to the broad spectrum of genetic disorders associated with autism spectrum disorders (ASD). ASD were reported predominantly in congenital and early childhood forms of DM1. We describe dizygotic twin boys with ASD who were referred for routine laboratory geneti...