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

Abstract

Halgren C, Kjaergaard S, Bak M, Hansen C, El‐Schich 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‐M, Andrieux J, Dieux A, Tommerup N, Bache I. 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 Phenotype–genotype comparison of the translocation patient to seven unpublished patients with various sized deletions encompassing ARID1B confirms that haploinsufficiency of ARID1B is associated with CC abnormalities, intellectual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.

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References 21

1. 1.

   Paul LK, Brown WS, Adolphs R, et al. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci. 2007;8(4):287-299.

   Not in our library10.1038/nrn2107

2. 2.

   Wang LW, Huang CC, Yeh TF. Major brain lesions detected on sonographic screening of apparently normal term neonates. Neuroradiology. 2004;46(5):368-373.

   Not in our library10.1007/s00234-003-1160-4

3. 3.

   Bedeschi MF, Bonaglia MC, Grasso R, et al. Agenesis of the corpus callosum: clinical and genetic study in 63 young patients. Pediatr Neurol. 2006;34(3):186-193.

   Not in our library10.1016/j.pediatrneurol.2005.08.008

4. 4.

   Glass HC, Shaw GM, Ma C, Sherr EH. Agenesis of the corpus callosum in California 1983–2003: a population-based study. Am J Med Genet A. 2008;146A(19):2495-2500.

   Not in our library10.1002/ajmg.a.32418

5. 5.

   Mangione R, Fries N, Godard P, et al. Neurodevelopmental outcome following prenatal diagnosis of an isolated anomaly of the corpus callosum. Ultrasound Obstet Gynecol. 2011;37(3):290-295.

   Not in our library10.1002/uog.8882

6. 6.

   Schell-Apacik CC, Wagner K, Bihler M, et al. Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A. 2008;146A(19):2501-2511.

   Not in our library10.1002/ajmg.a.32476

7. 7.

   Dobyns WB. Absence makes the search grow longer. Am J Hum Genet. 1996;58(1):7-16.

   Not in our library

8. 8.

   O’Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB. Identification of genomic loci contributing to agenesis of the corpus callosum. Am J Med Genet A. 2010;152A(9):2145-2159.

   Not in our library10.1002/ajmg.a.33558

9. 9.

   Pirola B, Bortotto L, Giglio S, et al. Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. J Med Genet. 1998;35(12):1031-1033.

   Not in our library10.1136/jmg.35.12.1031

10. 10.

    Rubtsov N, Senger G, Kuzcera H, et al. Interstitial deletion of chromosome 6q: precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting. Hum Genet. 1996;97(6):705-709.

    Not in our library10.1007/bf02346176

11. 11.

    Nagamani SC, Erez A, Eng C, et al. Interstitial deletion of 6q25. 2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. Eur J Hum Genet. 2009;17((5)):573-581.

    Not in our library10.1038/ejhg.2008.220

12. 12.

    Firth HV, Richards SM, Bevan AP, et al. DECIPHER: database of chromosomal imbalance and phenotype in humans using ensemble resources. Am J Hum Genet. 2009;84(4):524-533.

    Not in our library10.1016/j.ajhg.2009.03.010

13. 13.
    Ultrafast and memory-efficient alignment of short DNA sequences to the human genome · 2009

    No notice
14. 14.

    Vandesompele J, De Preter K, Pattyn F, et al. Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol. 2002;3(7):RESEARCH0034.

    Not in our library10.1186/gb-2002-3-7-research0034

15. 15.

    Nord AS, Roeb W, Dickel DE, et al. Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Eur J Hum Genet. 2011;30:1-5.

    Not in our library10.1038/ejhg.2011.24

16. 16.

    Backx L, Seuntjens E, Devriendt K, Vermeesch J, Van Esch H. A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum. Cytogenet Genome Res. 2011;132(3):135-143.

    Not in our library10.1159/000321577

17. 17.

    van Bon BW, Koolen DA, Borgatti R, et al. Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. J Med Genet. 2008;45(6):346-54.

    Not in our library10.1136/jmg.2007.055830

18. 18.

    Ovcharenko I, Loots GG, Nobrega MA, Hardison RC, Miller W, Stubbs L. Evolution and functional classification of vertebrate gene deserts. Genome Res. 2005;15(1):137-145.

    Not in our library10.1101/gr.3015505

19. 19.

    Nagl NG, Wang X, Patsialou A, Van Scoy M, Moran E. Distinct mammalian SWI/SNF chromatin remodeling complexes with opposing roles in cell-cycle control. EMBO J. 2007;26(3):752-763.

    Not in our library10.1038/sj.emboj.7601541

20. 20.

    Yan Z, Wang Z, Sharova L, et al. BAF250B-associated SWI/SNF chromatin-remodeling complex is required to maintain undifferentiated mouse embryonic stem cells. Stem Cells. 2008;26(5):1155-1165.

    Not in our library10.1634/stemcells.2007-0846

21. 21.

    Li XS, Trojer P, Matsumura T, Treisman JE, Tanese N. Mammalian SWI/SNF-a subunit BAF250/ARID1 is an E3 ubiquitin ligase that targets histone H2B. Mol Cell Biol. 2010;30(7):1673-1688.

    Not in our library10.1128/mcb.00540-09

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