Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

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

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Halgren, C, Kjaergaard, S, Bak, M, Hansen, C, El-Schich, Z, Anderson, CM, Henriksen, KF, Hjalgrim, H, Kirchhoff, EM, Bijlsma, EK, Nielsen, M, den Hollander, NS, Ruivenkamp, CAL, Isidor, B, Le Caignec, C, Zannolli, R, Mucciolo, M, Renieri, A, Mari, F, Anderlid, B-M, Andrieux, J, Dieux, A, Tommerup, N & Bache, I 2012, 'Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B' Clinical Genetics, vol. 82, no. 3, pp. 248-55. https://doi.org/10.1111/j.1399-0004.2011.01755.x

APA

CBE

Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, Kirchhoff EM, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp CAL, Isidor B, Le Caignec C, Zannolli R, Mucciolo M, Renieri A, Mari F, Anderlid B-M, Andrieux J, Dieux A, Tommerup N, Bache I. 2012. Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Clinical Genetics. 82(3):248-55. https://doi.org/10.1111/j.1399-0004.2011.01755.x

MLA

Vancouver

Author

Halgren, Christina ; Kjaergaard, S ; Bak, M ; Hansen, C ; El-Schich, Z ; Anderson, C M ; Henriksen, K F ; Hjalgrim, Helle ; Kirchhoff, Eva Maria ; Bijlsma, E K ; Nielsen, M ; den Hollander, N S ; Ruivenkamp, C A L ; Isidor, B ; Le Caignec, C ; Zannolli, R ; Mucciolo, M ; Renieri, A ; Mari, F ; Anderlid, B-M ; Andrieux, J ; Dieux, A ; Tommerup, Niels ; Bache, Iben. / Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. In: Clinical Genetics. 2012 ; Vol. 82, No. 3. pp. 248-55.

Bibtex

@article{f2c6685dd0e942b78502149c98e33549,
title = "Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B",
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.",
author = "Christina Halgren and S Kjaergaard and M Bak and C Hansen and Z El-Schich and Anderson, {C M} and Henriksen, {K F} and Helle Hjalgrim and Kirchhoff, {Eva Maria} and Bijlsma, {E K} and M Nielsen and {den Hollander}, {N S} and Ruivenkamp, {C A L} and B Isidor and {Le Caignec}, C and R Zannolli and M Mucciolo and A Renieri and F Mari and B-M Anderlid and J Andrieux and A Dieux and Niels Tommerup and Iben Bache",
note = "{\circledC} 2011 John Wiley & Sons A/S.",
year = "2012",
doi = "10.1111/j.1399-0004.2011.01755.x",
language = "English",
volume = "82",
pages = "248--55",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell Munksgaard",
number = "3",

}

RIS

TY - JOUR

T1 - Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

AU - Halgren, Christina

AU - Kjaergaard, S

AU - Bak, M

AU - Hansen, C

AU - El-Schich, Z

AU - Anderson, C M

AU - Henriksen, K F

AU - Hjalgrim, Helle

AU - Kirchhoff, Eva Maria

AU - Bijlsma, E K

AU - Nielsen, M

AU - den Hollander, N S

AU - Ruivenkamp, C A L

AU - Isidor, B

AU - Le Caignec, C

AU - Zannolli, R

AU - Mucciolo, M

AU - Renieri, A

AU - Mari, F

AU - Anderlid, B-M

AU - Andrieux, J

AU - Dieux, A

AU - Tommerup, Niels

AU - Bache, Iben

N1 - © 2011 John Wiley & Sons A/S.

PY - 2012

Y1 - 2012

N2 - 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.

AB - 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.

U2 - 10.1111/j.1399-0004.2011.01755.x

DO - 10.1111/j.1399-0004.2011.01755.x

M3 - Journal article

VL - 82

SP - 248

EP - 255

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 3

ER -

ID: 36822762