Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

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Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

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dc.contributor.author Halgren, Christina
dc.contributor.author Kjaergaard, Susanne
dc.contributor.author Bak, Mads
dc.contributor.author Hansen, Claus
dc.contributor.author El-Schich, Zahra
dc.contributor.author Anderson, Claire Marie
dc.contributor.author Henriksen, Karen Friis
dc.contributor.author Hjalgrim, Helle
dc.contributor.author Kirchhoff, Maria
dc.contributor.author Bijlsma, Emilia
dc.contributor.author Nielsen, Maartje
dc.contributor.author den Hollander, Nicolette
dc.contributor.author Ruivenkamp, Claudia
dc.contributor.author Isidor, Bertrand
dc.contributor.author Le Caignec, Cédric
dc.contributor.author Zannolli, Raffaella
dc.contributor.author Mucciolo, Mafalda
dc.contributor.author Renieri, Alessandra
dc.contributor.author Mari, Francesca
dc.contributor.author Anderlid, Britt-Marie
dc.contributor.author Andrieux, Joris
dc.contributor.author Dieux, Anne
dc.contributor.author Tommerup, Niels
dc.contributor.author Bache, Iben
dc.date.accessioned 2012-01-10T11:27:49Z
dc.date.available 2012-01-10T11:27:49Z
dc.date.issued 2012 en_US
dc.identifier.issn 1399-0004 en_US
dc.identifier.uri http://hdl.handle.net/2043/13086
dc.description.abstract Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Corpus callosum abnormalities are common brain malformations with a wide clinical spectrum ranging from severe intellectual disability to normal cognitive function. The etiology is expected to be genetic in as much as 30-50% of the cases, but the underlying genetic cause remains unknown in the majority of cases. By next-generation mate-pair sequencing we mapped the chromosomal breakpoints of a patient with a de novo balanced translocation, t(1;6)(p31;q25), agenesis of corpus callosum (CC), intellectual disability, severe speech impairment, and autism. The chromosome 6 breakpoint truncated ARID1B which was also truncated in a recently published translocation patient with a similar phenotype. Quantitative polymerase chain reaction (Q-PCR) data showed that a primer set proximal to the translocation showed increased expression of ARID1B, whereas primer sets spanning or distal to the translocation showed decreased expression in the patient relative to a non-related control set. Phenotype-genotype comparison of the translocation patient to seven unpublished patients with various sized deletions encompassing ARID1B confirms that haploinsufficiency of ARID1B is associated with CC abnormalities, intellectual disability, severe speech impairment, and autism. Our findings emphasize that ARID1B is important in human brain development and function in general, and in the development of CC and in speech development in particular. en_US
dc.format.extent 8
dc.language.iso eng en_US
dc.publisher Wiley en_US
dc.subject ARID1B en_US
dc.subject autism spectrum disorder en_US
dc.subject chromosome 6q25 en_US
dc.subject corpus callosum en_US
dc.subject intellectual disability en_US
dc.subject next-generation mate-pair sequencing en_US
dc.subject speech impairment en_US
dc.subject translocation en_US
dc.subject.classification Medicine en_US
dc.title Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B en_US
dc.type Article, other scientific en_US
dc.contributor.department Malmö University. Faculty of Health and Society en
dc.identifier.doi 10.1111/j.1399-0004.2011.01755.x en_US
dc.subject.srsc Research Subject Categories::MEDICINE en_US
dc.relation.ispartofpublication Clinical Genetics;3
dc.relation.ispartofpublicationvolume 82
dc.format.ePage 255
dc.format.sPage 248
mahlocal.rights.oaType bronze
mahlocal.rights.oaType green
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