Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome

Kato, Zenichiro; Yamagishi, Atsushi; Kondo, Naomi

doi:10.1016/j.jaapos.2006.09.006

Cited by 8 publications

(5 citation statements)

References 10 publications

(12 reference statements)

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“…In the paper of Kato et al [2007], the molecular characterization showed an interstitial deletion encompassing the same region as involved in our case. The anomaly was characterized by high-resolution G-banding analysis and spectral karyotyping.…”

Section: Discussionsupporting

confidence: 57%

“…Rearrangements of the region 1q42.13q43 are rare, with only 7 cases reported to date [Beemer et al, 1985;Bortotto et al, 1990;Kato et al, 2007;Williams et al, 2009;Crepel et al, 2010;Rigola et al, 2015;Wang et al, 2016]. The imbalances described are usually the result of inherited translocations involving other chromosomes, making difficult to establish a specific karyotype/phenotype correlation.…”

mentioning

confidence: 99%

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Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1

Silipigni

Monfrini

Baccarin

et al. 2017

Cytogenet Genome Res

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Rearrangements of the region 1q42.13q43 are rare, with only 7 cases reported to date. The imbalances described are usually the result of inherited translocations with other chromosomes. Moreover, few cases of both inter- and intrachromosomal deletions/duplications detected cytogenetically have been described. We report the molecular cytogenetic characterization of an inverted insertion involving the region 1q42.13q43 and segregating in 2 generations of a family. The deletion and the duplication of the same segment were detected in 2 affected family members. SNP array analysis showed the familial origin of the deletion/duplication due to the occurrence of a crossing-over during meiosis. Our report underlines the importance of determining the correct origin of chromosomal aberrations using different molecular cytogenetic tests in order to provide a good estimation of the reproductive risk for the members of the family.

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Section: Discussionsupporting

confidence: 57%

mentioning

confidence: 99%

Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1

Silipigni

Monfrini

Baccarin

et al. 2017

Cytogenet Genome Res

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“…Others have also shown deletions in or near the chromosomal region of 1q42 in patients with readily apparent callosal abnormalities (Fig. 3) [Gentile et al, 2003; Kato et al, 2007; Filges et al, 2010]. However, Rice et al [2006] report a patient with an interstitial deletion in this region that includes DISC1 but with normal callosal development.…”

Section: Discussionmentioning

confidence: 99%

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene

Osbun

Jiang

O’Driscoll

et al. 2011

American J of Med Genetics Pt A

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Agenesis of the corpus callosum (AgCC) is a congenital brain malformation that occurs in approximately 1:1,000–1:6,000 births. Several syndromes associated with AgCC have been traced to single gene mutations; however, the majority of AgCC causes remain unidentified. We investigated a mother and two children who all shared complete AgCC and a chromosomal deletion at 1q42. We fine mapped this deletion and show that it includes Disrupted-in-Schizophrenia 1 (DISC1), a gene implicated in schizophrenia and other psychiatric disorders. Furthermore, we report a de novo chromosomal deletion at 1q42.13 to q44, which includes DISC1, in another individual with AgCC. We resequenced DISC1 in a cohort of 144 well-characterized AgCC individuals and identified 20 sequence changes, of which 4 are rare potentially pathogenic variants. Two of these variants were undetected in 768 control chromosomes. One of these is a splice site mutation at the 5’ boundary of exon 11 that dramatically reduces full-length mRNA expression of DISC1, but not of shorter forms. We investigated the developmental expression of mouse DISC1 and find that it is highly expressed in the embryonic corpus callosum at a critical time for callosal formation. Taken together our results suggest a significant role for DISC1 in corpus callosum development.

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“…Kato et al 20 reported a patient with interstitial deletion of 1q with Duane syndrome. 20 High-resolution magnetic resonance imaging has demonstrated absence or hypoplasia of the abducens nerve in both orbit and brainstem regions and apparent misdirection of the oculomotor nerve to the lateral rectus muscle in patients with Duane syndrome. 21 None of this genetic or neuroimaging information is available on our patients.…”

Section: Discussionmentioning

confidence: 99%

Differences in epidemiological and clinical characteristics between various types of Duane retraction syndrome in 331 patients

Mohan¹,

Sharma²,

Pandav

2008

Journal of American Association for Pediatric Ophthalmology and

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Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome

Cited by 8 publications

References 10 publications

Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1

Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene

Differences in epidemiological and clinical characteristics between various types of Duane retraction syndrome in 331 patients

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