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

Zuzana Musova,1 Miroslava Hancarova,1 Marketa Havlovicova,1 Radka Pourova,1 Michal Hrdlicka,2 Josef Kraus,3 Marie Trkova,4 David Stejskal,4 Zdenek Sedlacek1 1Department of Biology and Medical Genetics, 2Department of Child Psychiatry, 3Department of Child Neurology, Charles University 2nd Faculty o...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Musova Z, Hancarova M, Havlovicova M, Pourova R, Hrdlicka M, Kraus J, Trkova M, Stejskal D, Sedlacek Z
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2016
Materias:	autism myotonic dystrophy type 1 DMPK gene genetic testing Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/8bc55686b97a47fb858595d50b3e363c
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:8bc55686b97a47fb858595d50b3e363c
record_format	dspace
spelling	oai:doaj.org-article:8bc55686b97a47fb858595d50b3e363c2021-12-02T02:29:10ZExpanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism1178-2021https://doaj.org/article/8bc55686b97a47fb858595d50b3e363c2016-09-01T00:00:00Zhttps://www.dovepress.com/expanded-dmpk-repeats-in-dizygotic-twins-referred-for-diagnosis-of-aut-peer-reviewed-article-NDThttps://doaj.org/toc/1178-2021Zuzana Musova,1 Miroslava Hancarova,1 Marketa Havlovicova,1 Radka Pourova,1 Michal Hrdlicka,2 Josef Kraus,3 Marie Trkova,4 David Stejskal,4 Zdenek Sedlacek1 1Department of Biology and Medical Genetics, 2Department of Child Psychiatry, 3Department of Child Neurology, Charles University 2nd Faculty of Medicine and University Hospital Motol, 4Gennet, Centre for Fetal Medicine, Prague, Czech Republic Abstract: 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. Keywords: autism, myotonic dystrophy type 1, DMPK gene, genetic testing, comorbidityMusova ZHancarova MHavlovicova MPourova RHrdlicka MKraus JTrkova MStejskal DSedlacek ZDove Medical Pressarticleautismmyotonic dystrophy type 1DMPK genegenetic testingNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol Volume 12, Pp 2367-2372 (2016)
institution	DOAJ
collection	DOAJ
language	EN
topic	autism myotonic dystrophy type 1 DMPK gene genetic testing Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	autism myotonic dystrophy type 1 DMPK gene genetic testing Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Musova Z Hancarova M Havlovicova M Pourova R Hrdlicka M Kraus J Trkova M Stejskal D Sedlacek Z Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism
description	Zuzana Musova,1 Miroslava Hancarova,1 Marketa Havlovicova,1 Radka Pourova,1 Michal Hrdlicka,2 Josef Kraus,3 Marie Trkova,4 David Stejskal,4 Zdenek Sedlacek1 1Department of Biology and Medical Genetics, 2Department of Child Psychiatry, 3Department of Child Neurology, Charles University 2nd Faculty of Medicine and University Hospital Motol, 4Gennet, Centre for Fetal Medicine, Prague, Czech Republic Abstract: 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. Keywords: autism, myotonic dystrophy type 1, DMPK gene, genetic testing, comorbidity
format	article
author	Musova Z Hancarova M Havlovicova M Pourova R Hrdlicka M Kraus J Trkova M Stejskal D Sedlacek Z
author_facet	Musova Z Hancarova M Havlovicova M Pourova R Hrdlicka M Kraus J Trkova M Stejskal D Sedlacek Z
author_sort	Musova Z
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_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_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_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
publisher	Dove Medical Press
publishDate	2016
url	https://doaj.org/article/8bc55686b97a47fb858595d50b3e363c
work_keys_str_mv	AT musovaz expandeddmpkrepeatsindizygotictwinsreferredfordiagnosisofautismversusabsenceofexpandeddmpkrepeatsatscreeningof330childrenwithautism AT hancarovam expandeddmpkrepeatsindizygotictwinsreferredfordiagnosisofautismversusabsenceofexpandeddmpkrepeatsatscreeningof330childrenwithautism AT havlovicovam expandeddmpkrepeatsindizygotictwinsreferredfordiagnosisofautismversusabsenceofexpandeddmpkrepeatsatscreeningof330childrenwithautism AT pourovar expandeddmpkrepeatsindizygotictwinsreferredfordiagnosisofautismversusabsenceofexpandeddmpkrepeatsatscreeningof330childrenwithautism AT hrdlickam expandeddmpkrepeatsindizygotictwinsreferredfordiagnosisofautismversusabsenceofexpandeddmpkrepeatsatscreeningof330childrenwithautism AT krausj expandeddmpkrepeatsindizygotictwinsreferredfordiagnosisofautismversusabsenceofexpandeddmpkrepeatsatscreeningof330childrenwithautism AT trkovam expandeddmpkrepeatsindizygotictwinsreferredfordiagnosisofautismversusabsenceofexpandeddmpkrepeatsatscreeningof330childrenwithautism AT stejskald expandeddmpkrepeatsindizygotictwinsreferredfordiagnosisofautismversusabsenceofexpandeddmpkrepeatsatscreeningof330childrenwithautism AT sedlacekz expandeddmpkrepeatsindizygotictwinsreferredfordiagnosisofautismversusabsenceofexpandeddmpkrepeatsatscreeningof330childrenwithautism
_version_	1718402483822264320

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

Ejemplares similares