{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T02:55:35Z","timestamp":1794020135404,"version":"4.8.0"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,8,24]],"date-time":"2011-08-24T00:00:00Z","timestamp":1314144000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2012,9]]},"abstract":"<jats:p>Halgren C, Kjaergaard S, Bak M, Hansen C, El\u2010Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, Kirchhoff M, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp CAL, Isidor B, Le Caignec C, Zannolli R, Mucciolo M, Renieri A, Mari F, Anderlid B\u2010M, Andrieux J, Dieux A, Tommerup N, Bache I. Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of <jats:italic>ARID1B.<\/jats:italic><\/jats:p><jats:p>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\u201350% of the cases, but the underlying genetic cause remains unknown in the majority of cases. By next\u2010generation mate\u2010pair sequencing we mapped the chromosomal breakpoints of a patient with a <jats:italic>de novo<\/jats:italic> balanced translocation, t(1;6)(p31;q25), agenesis of corpus callosum (CC), intellectual disability, severe speech impairment, and autism. The chromosome 6 breakpoint truncated <jats:italic>ARID1B<\/jats:italic> which was also truncated in a recently published translocation patient with a similar phenotype. Quantitative polymerase chain reaction (Q\u2010PCR) data showed that a primer set proximal to the translocation showed increased expression of <jats:italic>ARID1B<\/jats:italic>, whereas primer sets spanning or distal to the translocation showed decreased expression in the patient relative to a non\u2010related control set. Phenotype\u2013genotype comparison of the translocation patient to seven unpublished patients with various sized deletions encompassing <jats:italic>ARID1B<\/jats:italic> confirms that haploinsufficiency of <jats:italic>ARID1B<\/jats:italic> is associated with CC abnormalities, intellectual disability, severe speech impairment, and autism. Our findings emphasize that <jats:italic>ARID1B<\/jats:italic> is important in human brain development and function in general, and in the development of CC and in speech development in particular.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2011.01755.x","type":"journal-article","created":{"date-parts":[[2011,7,29]],"date-time":"2011-07-29T19:13:29Z","timestamp":1311966809000},"page":"248-255","source":"Crossref","is-referenced-by-count":124,"title":["Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of 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