Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review

Li, Chunyang; Liu, Chunxue; Zhou, Bo; Hu, Chunchun; Xu, Xiu

doi:10.1186/s13039-016-0261-9

Cited by 29 publications

(34 citation statements)

References 24 publications

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“…Furthermore, 3p26 deletion disrupted a more distal gene: CHL1 that plays a crucial role in development of the cortex by regulating neuronal differentiation and axon guidance [27]. Previous studies suggested CHL1 as a dosage-sensitive gene with a main role in intellectual disabilities [28].…”

Section: Resultsmentioning

confidence: 99%

Neuronal migration genes and a familial translocation t(3;17): Candidate genes implicated in the phenotype

AMOR

Dimassi

Hannachi

et al. 2019

Preprint

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Background: While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 duplications. Methods: In this study, we report on clinical and cytogenetic characterization of two new cases involving 17p13.3 and 3p26 chromosomal regions in two sisters with familial history of lissencephaly. Fluorescent In Situ Hybridization and array Comparative Genomic Hybridization were performed. Results: A deletion including the critical region of the Miller-Dieker syndrome of at least 2,9 Mb and a duplication of at least 3,6 Mb on the short arm of chromosome 3 were highlighted in one case. The opposite rearrangements, 17p13.3 duplication and 3p deletion were observed in the second case. This double chromosomal aberration is the result of an adjacent 1:1 meiotic segregation of a maternal reciprocal translocation t(3;17)(p26.2;p13.3). Conclusions: 17p13.3 and 3p26 deletions have a clear range of phenotypic features while duplications still have an uncertain clinical significance. However, we could suggest that regardless of the type of the rearrangement, the gene dosage and interactions of CNTN4, CNTN6 and CHL1 in the 3p26 and PAFAH1B1, YWHAE in 17p13.3 could result in different clinical spectrums.

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Section: Resultsmentioning

confidence: 99%

Neuronal migration genes and a familial translocation t(3;17): Candidate genes implicated in the phenotype

AMOR

Dimassi

Hannachi

et al. 2019

Preprint

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“… TM4-3 3p26.3 159 kb gain CHL1 - CHL1 encodes a member of the L1 family of neural cell adhesion molecules, which plays a role in nervous system development and synaptic plasticity 85 , 86 . - Loss and gain of the CHL1 gene have been identified in patients with autism and ID 50 , 51 . AR12-3 18q22.3 217 kb gain ZNF407 - ZNF407 encodes a zinc finger protein which may be involved in transcriptional regulation.…”

Section: Resultsmentioning

confidence: 99%

“…In the five de novo CNVs, one was a large deletion associated with the known 9q21.13 microdeletion syndrome, while the other four were duplications ranging from 127–220 kb in size. These duplications contained recently identified ASD-associated genes, DPP10 49 and CHL1 50 , 51 , and two genes that are highly expressed in the brain, but have not yet been linked to ASD, namely carnosine dipeptidase 1 ( CNDP1 ) and serine incorporator 2 ( SERINC2 ). Duplications of neither SERINC2 nor CNDP1 have been reported in the Thai CNV database 34 .…”

Section: Discussionmentioning

confidence: 99%

Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder

Hnoonual

Thammachote

Tim‐Aroon

et al. 2017

Sci Rep

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Chromosomal microarray (CMA) is now recognized as the first-tier genetic test for detection of copy number variations (CNVs) in patients with autism spectrum disorder (ASD). The aims of this study were to identify known and novel ASD associated-CNVs and to evaluate the diagnostic yield of CMA in Thai patients with ASD. The Infinium CytoSNP-850K BeadChip was used to detect CNVs in 114 Thai patients comprised of 68 retrospective ASD patients (group 1) with the use of CMA as a second line test and 46 prospective ASD and developmental delay patients (group 2) with the use of CMA as the first-tier test. We identified 7 (6.1%) pathogenic CNVs and 22 (19.3%) variants of uncertain clinical significance (VOUS). A total of 29 patients with pathogenic CNVs and VOUS were found in 22% (15/68) and 30.4% (14/46) of the patients in groups 1 and 2, respectively. The difference in detected CNV frequencies between the 2 groups was not statistically significant (Chi square = 1.02, df = 1, P = 0.31). In addition, we propose one novel ASD candidate gene, SERINC2, which warrants further investigation. Our findings provide supportive evidence that CMA studies using population-specific reference databases in underrepresented populations are useful for identification of novel candidate genes.

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“…Furthermore, 3p26 deletion disrupted a more distal gene: CHL1 that plays a crucial role in the development of the cortex by regulating neuronal differentiation and axon guidance [27]. Previous studies suggested CHL1 as a dosagesensitive gene with a major role in intellectual disabilities [28]. Interestingly, Frints hypothesized that a reduction equal to 50% of chl1 in the developing brain marked cognitive deficit [29].…”

Section: Discussionmentioning

confidence: 99%

Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype

et al. 2020

View full text Add to dashboard Cite

Background: While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 duplications. Methods: In this study, we report on clinical and cytogenetic characterization of two new cases involving 17p13.3 and 3p26 chromosomal regions in two sisters with familial history of lissencephaly. Fluorescent In Situ Hybridization and array Comparative Genomic Hybridization were performed. Results: A deletion including the critical region of the Miller-Dieker syndrome of at least 2,9 Mb and a duplication of at least 3,6 Mb on the short arm of chromosome 3 were highlighted in one case. The opposite rearrangements, 17p13.3 duplication and 3p deletion, were observed in the second case. This double chromosomal aberration is the result of an adjacent 1:1 meiotic segregation of a maternal reciprocal translocation t(3,17)(p26.2;p13.3). Conclusions: 17p13.3 and 3p26 deletions have a clear range of phenotypic features while duplications still have an uncertain clinical significance. However, we could suggest that regardless of the type of the rearrangement, the gene dosage and interactions of CNTN4, CNTN6 and CHL1 in the 3p26 and PAFAH1B1, YWHAE in 17p13.3 could result in different clinical spectrums.

show abstract

Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review

Cited by 29 publications

References 24 publications

Neuronal migration genes and a familial translocation t(3;17): Candidate genes implicated in the phenotype

Neuronal migration genes and a familial translocation t(3;17): Candidate genes implicated in the phenotype

Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder

Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype

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