Cargando…

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

Descripción completa

Detalles Bibliográficos
Autores principales: Musova, Zuzana, Hancarova, Miroslava, Havlovicova, Marketa, Pourova, Radka, Hrdlicka, Michal, Kraus, Josef, Trkova, Marie, Stejskal, David, Sedlacek, Zdenek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5034902/
https://www.ncbi.nlm.nih.gov/pubmed/27695335
http://dx.doi.org/10.2147/NDT.S113917
_version_ 1782455345748115456
author Musova, Zuzana
Hancarova, Miroslava
Havlovicova, Marketa
Pourova, Radka
Hrdlicka, Michal
Kraus, Josef
Trkova, Marie
Stejskal, David
Sedlacek, Zdenek
author_facet Musova, Zuzana
Hancarova, Miroslava
Havlovicova, Marketa
Pourova, Radka
Hrdlicka, Michal
Kraus, Josef
Trkova, Marie
Stejskal, David
Sedlacek, Zdenek
author_sort Musova, Zuzana
collection PubMed
description 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 genetic testing and in whom karyotyping, FMR1 gene testing, and single nucleotide polymorphism array analysis yielded negative results. The father of the boys was later diagnosed with suspected DM1, and testing revealed characteristic DMPK gene expansions in his genome as well as in the genomes of both twins and their elder brother, who also suffered from ASD. In accord with previous reports on childhood forms of DM1, our patients showed prominent neuropsychiatric phenotypes characterized especially by hypotonia, developmental and language delay, emotional and affective lability, lowered adaptability, and social withdrawal. The experience with this family and multiple literature reports of ASD in DM1 on the one side but the lack of literature data on the frequency of DMPK gene expansions in ASD patients on the other side prompted us to screen the DMPK gene in a sample of 330 patients with ASD who were first seen by a geneticist before they were 10 years of age, before the muscular weakness, which may signal DM1, usually becomes obvious. The absence of any DMPK gene expansions in this cohort indicates that targeted DMPK gene testing can be recommended only in ASD patients with specific symptoms or family history suggestive of DM1.
format Online
Article
Text
id pubmed-5034902
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher Dove Medical Press
record_format MEDLINE/PubMed
spelling pubmed-50349022016-09-30 Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism Musova, Zuzana Hancarova, Miroslava Havlovicova, Marketa Pourova, Radka Hrdlicka, Michal Kraus, Josef Trkova, Marie Stejskal, David Sedlacek, Zdenek Neuropsychiatr Dis Treat Original Research 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 genetic testing and in whom karyotyping, FMR1 gene testing, and single nucleotide polymorphism array analysis yielded negative results. The father of the boys was later diagnosed with suspected DM1, and testing revealed characteristic DMPK gene expansions in his genome as well as in the genomes of both twins and their elder brother, who also suffered from ASD. In accord with previous reports on childhood forms of DM1, our patients showed prominent neuropsychiatric phenotypes characterized especially by hypotonia, developmental and language delay, emotional and affective lability, lowered adaptability, and social withdrawal. The experience with this family and multiple literature reports of ASD in DM1 on the one side but the lack of literature data on the frequency of DMPK gene expansions in ASD patients on the other side prompted us to screen the DMPK gene in a sample of 330 patients with ASD who were first seen by a geneticist before they were 10 years of age, before the muscular weakness, which may signal DM1, usually becomes obvious. The absence of any DMPK gene expansions in this cohort indicates that targeted DMPK gene testing can be recommended only in ASD patients with specific symptoms or family history suggestive of DM1. Dove Medical Press 2016-09-19 /pmc/articles/PMC5034902/ /pubmed/27695335 http://dx.doi.org/10.2147/NDT.S113917 Text en © 2016 Musova et al. This work is published and licensed by Dove Medical Press Limited The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.
spellingShingle Original Research
Musova, Zuzana
Hancarova, Miroslava
Havlovicova, Marketa
Pourova, Radka
Hrdlicka, Michal
Kraus, Josef
Trkova, Marie
Stejskal, David
Sedlacek, Zdenek
Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism
title Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism
title_full Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism
title_fullStr Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism
title_full_unstemmed Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism
title_short Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism
title_sort expanded dmpk repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded dmpk repeats at screening of 330 children with autism
topic Original Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5034902/
https://www.ncbi.nlm.nih.gov/pubmed/27695335
http://dx.doi.org/10.2147/NDT.S113917
work_keys_str_mv AT musovazuzana expandeddmpkrepeatsindizygotictwinsreferredfordiagnosisofautismversusabsenceofexpandeddmpkrepeatsatscreeningof330childrenwithautism
AT hancarovamiroslava expandeddmpkrepeatsindizygotictwinsreferredfordiagnosisofautismversusabsenceofexpandeddmpkrepeatsatscreeningof330childrenwithautism
AT havlovicovamarketa expandeddmpkrepeatsindizygotictwinsreferredfordiagnosisofautismversusabsenceofexpandeddmpkrepeatsatscreeningof330childrenwithautism
AT pourovaradka expandeddmpkrepeatsindizygotictwinsreferredfordiagnosisofautismversusabsenceofexpandeddmpkrepeatsatscreeningof330childrenwithautism
AT hrdlickamichal expandeddmpkrepeatsindizygotictwinsreferredfordiagnosisofautismversusabsenceofexpandeddmpkrepeatsatscreeningof330childrenwithautism
AT krausjosef expandeddmpkrepeatsindizygotictwinsreferredfordiagnosisofautismversusabsenceofexpandeddmpkrepeatsatscreeningof330childrenwithautism
AT trkovamarie expandeddmpkrepeatsindizygotictwinsreferredfordiagnosisofautismversusabsenceofexpandeddmpkrepeatsatscreeningof330childrenwithautism
AT stejskaldavid expandeddmpkrepeatsindizygotictwinsreferredfordiagnosisofautismversusabsenceofexpandeddmpkrepeatsatscreeningof330childrenwithautism
AT sedlacekzdenek expandeddmpkrepeatsindizygotictwinsreferredfordiagnosisofautismversusabsenceofexpandeddmpkrepeatsatscreeningof330childrenwithautism