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

DSpace Repository

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

Show full item record

Files for download

Facebook

Simple item record

Publication Article, other scientific
Title Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
Author(s) Halgren, Christina ; Kjaergaard, Susanne ; Bak, Mads ; Hansen, Claus ; El-Schich, Zahra ; Anderson, Claire Marie ; Henriksen, Karen Friis ; Hjalgrim, Helle ; Kirchhoff, Maria ; Bijlsma, Emilia ; Nielsen, Maartje ; den Hollander, Nicolette ; Ruivenkamp, Claudia ; Isidor, Bertrand ; Le Caignec, Cédric ; Zannolli, Raffaella ; Mucciolo, Mafalda ; Renieri, Alessandra ; Mari, Francesca ; Anderlid, Britt-Marie ; Andrieux, Joris ; Dieux, Anne ; Tommerup, Niels ; Bache, Iben
Date 2012
English 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 Phenotype-genotype comparison of the translocation patient to seven unpublished patients with various sized deletions encompassing ARID1B confirms that haploinsufficiency of ARID1B is associated with CC abnormalities, intellectual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.
DOI http://dx.doi.org/10.1111/j.1399-0004.2011.01755.x (link to publisher's fulltext)
Publisher Wiley
Host/Issue Clinical Genetics;3
Volume 82
ISSN 1399-0004
Pages 248–255
Language eng (iso)
Subject(s) ARID1B
autism spectrum disorder
chromosome 6q25
corpus callosum
intellectual disability
next-generation mate-pair sequencing
speech impairment
translocation
Medicine
Research Subject Categories::MEDICINE
Handle http://hdl.handle.net/2043/13086 (link to this page)

This item appears in the following Collection(s)

Show full item record

Search


Browse

My Account

Statistics