Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination

Shimojima, Keiko; Okamoto, Nobuhiko; Suzuki, Yume; Saito, Mari; Mori, Masayuki; Yamagata, Tatanori; Momoi, Mariko Y.; Hattori, Hideji; Okano, Yoshiyuki; Hisata, Ken; Okumura, Akihisa; Yamamoto, Toshiyuki

doi:10.1038/jhg.2012.77

Cited by 20 publications

(17 citation statements)

References 18 publications

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“…The phenotype in this case represents a subset of the phenotype described in the case report by Perrone et al [5]. The deletion in our patient includes a 380 kb upstream region and the first four exons of CHRM3, whereas the deleted region present in patients reported by Perrone et al [5] and Shimojima et al [2], includes all 5 exons of CHRM3. Both children exhibit intellectual disability, autistic features, feeding difficulties and strabismus.…”

Section: Discussionmentioning

confidence: 53%

“…3. The clinical manifestations of the case reported by Perrone et al [5] and Shimojima et al [2], along with the present case are presented in Table 1.…”

Section: Resultsmentioning

confidence: 73%

“…Much remains to be elucidated with respect to the specific role that the M3-muscarinic receptor plays in human CNS pathophysiology, but these studies suggest a possible link between M3-muscarinic receptor pathophysiology and the neurocognitive phenotype seen in this case as well as others of 1q43-q44 deletions. [1,2] are also indicated. Based on genotype-phenotype the 1q43q44 region sub-divided into two groups; I and II.…”

Section: Discussionmentioning

confidence: 98%

“…[1,2]. Hand abnormalities appear to be associated with more proximal breakpoints around 1q42 [3] and craniofacial abnormalities with more distal around 1q44 [4].…”

Section: Introductionmentioning

confidence: 87%

See 3 more Smart Citations

Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder

Petersen

Aḥmad

Shafiq

et al. 2013

European Journal of Medical Genetics

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Section: Discussionmentioning

confidence: 53%

“…3. The clinical manifestations of the case reported by Perrone et al [5] and Shimojima et al [2], along with the present case are presented in Table 1.…”

Section: Resultsmentioning

confidence: 73%

Section: Discussionmentioning

confidence: 98%

“…[1,2]. Hand abnormalities appear to be associated with more proximal breakpoints around 1q42 [3] and craniofacial abnormalities with more distal around 1q44 [4].…”

Section: Introductionmentioning

confidence: 87%

See 2 more Smart Citations

Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder

Petersen

Aḥmad

Shafiq

et al. 2013

European Journal of Medical Genetics

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“…Orellana et al [2009] reported one patient with the clinical and molecular findings consistent with a role for AKT3 in corpus callosum development. Shimojima et al [2012] also described 6 patients with ACC and 1q44 deletion including AKT3 . Boland et al [2007] sequenced AKT3 in 45 patients and no mutations were found.…”

Section: Discussionmentioning

confidence: 99%

Pre- and Postnatal Analysis of Chromosome 1q44 Deletion in Agenesis of Corpus Callosum

et al. 2015

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Agenesis of corpus callosum (ACC) is one of the common brain abnormalities and also a common finding in children with mental disability. ACC is heterogeneous and can occur as an isolated condition or as part of a syndrome. ACC can be accurately identified by the absence of the cavum septum pallucidum and tear drop effect of the lateral ventricle after 18 weeks of pregnancy in an ultrasound scan. Genetic causes have been attributed to 30-45% of cases with ACC. Submicroscopic deletions of 1q43q44 have been reported in several cases of ACC. The AKT3 gene, mapped to 1q44, is required for the development of the callosum and brain size. It is considered to be a candidate gene for ACC. We studied a total of 22 cases with ACC, in pre- and postnatal samples using FISH probes. None of the samples showed a deletion in 1q44, implying that the AKT3 gene may not be associated with ACC.

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Repair and Reconstruction of Telomeric and Subtelomeric Regions and Genesis of New Telomeres: Implications for Chromosome Evolution

et al. 2020

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DNA damage repair within telomeres are suppressed to maintain the integrity of linear chromosomes, but the accidental activation of repairs can lead to genome instability. This review develops the concept that mechanisms to repair DNA damage in telomeres contribute to genetic variability and karyotype evolution, rather than catastrophe. Spontaneous breaks in telomeres can be repaired by telomerase, but in some cases DNA repair pathways are activated, and can cause chromosomal rearrangements or fusions. The resultant changes can also affect subtelomeric regions that are adjacent to telomeres. Subtelomeres are actively involved in such chromosomal changes, and are therefore the most variable regions in the genome. The case of Caenorhabditis elegans in the context of changes of subtelomeric structures revealed by long-read sequencing is also discussed. Theoretical and methodological issues covered in this review will help to explore the mechanism of chromosome evolution by reconstruction of chromosomal ends in nature.

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Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination

Cited by 20 publications

References 18 publications

Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder

Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder

Pre- and Postnatal Analysis of Chromosome 1q44 Deletion in Agenesis of Corpus Callosum

Repair and Reconstruction of Telomeric and Subtelomeric Regions and Genesis of New Telomeres: Implications for Chromosome Evolution

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