A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability

Shiota, Yuka; Hirosawa, Tetsu; Yoshimura, Yuko; Tanaka, Sanae; Hasegawa, Chiaki; Iwasaki, S; An, Kyung‐min; Soma, Daiki; Sano, Masuhiko; Yokoyama, Shigeru; Kikuchi, Mitsuru

doi:10.1371/journal.pone.0260548

Cited by 10 publications

(6 citation statements)

References 57 publications

(86 reference statements)

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“…5 Moreover, we recently investigated children without apparent delay and reported that the A-allele of this SNV was significantly more frequent in children with ASD than in children with typical development (TD), and the A-allele was associated with more autistic traits among children with TD. 6 It was speculated that the A-allele of rs2710102, which is frequent in ASD, may be associated with lower receptive language ability, which explains the lag between expressive and receptive language abilities in this population. However, it remains unclear whether this association is present in individuals without language delay, regardless of whether they had ASD or TD.…”

Section: Introductionmentioning

confidence: 99%

“…In particular, rs2710102, an SNV in CNTNAP2 , is associated with lower receptive language ability in individuals with ASD who had language delay 3 as well as in individuals with specific language impairment 5 . Moreover, we recently investigated children without apparent delay and reported that the A‐allele of this SNV was significantly more frequent in children with ASD than in children with typical development (TD), and the A‐allele was associated with more autistic traits among children with TD 6 …”

Section: Introductionmentioning

confidence: 99%

“… 5 Moreover, we recently investigated children without apparent delay and reported that the A‐allele of this SNV was significantly more frequent in children with ASD than in children with typical development (TD), and the A‐allele was associated with more autistic traits among children with TD. 6 …”

Section: Introductionmentioning

confidence: 99%

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Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay

Shiota

Hirosawa

Yoshimura

et al. 2022

Neuropsychopharm Rep

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Aim:The receptive language ability of individuals with autism spectrum disorder (ASD) seems to lag behind expressive language ability. Several autism-related genes may influence this developmental delay. Polymorphism of one such gene, namely, the contactin-associated protein-like 2 gene (CNTNAP2), affects receptive language in individuals with language delay. However, the association between CNTNAP2 polymorphism and receptive language in individuals with no language delay remains unclear. Methods:We included 59 children with ASD and 57 children with typical development in this study and investigated this association using coarse-grained exact matching. Results:We present the first evidence of an association between CNTNAP2 rs2710102 (A-allele carrier) and reduced receptive language ability in children with ASD whose language development was not delayed. Similarly, among children with typical development, A-allele carriers had lower receptive language ability, but the difference was non-significant.Conclusions: It is possible that the effect of rs2710102 on receptive language ability is larger in the presence of autism-related genes. Consequently, we speculate that the effect of rs2710102 on receptive language ability would be exerted in combination with other genes. These findings provide new insights into the genetic interactions between mutations associated with common language disorders and ASD and identify molecular mechanisms and risk alleles that contribute to receptive vocabulary. These findings also provide practical guidance in terms of providing candidate genetic markers that may provide opportunities for targeted early intervention to stratify risk and improve prognosis for poor receptive language development in children with ASD.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay

Shiota

Hirosawa

Yoshimura

et al. 2022

Neuropsychopharm Rep

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“…The singlenucleotide polymorphism of CNTNAP2 is suggested to contribute to epileptic seizures and intellectual disabilities. (Shiota et al 2021) Current literature on the frequencies of these polymorphisms in different populations and their relation with co-occurrence of intellectual disability and epilepsy is still unclear. Therefore, the biological role of the CNTNAP2 gene in neurodevelopmental disorders is currently a study focus area.…”

Section: Introductionmentioning

confidence: 99%

CNTNAP2 Associated Neurodevelopmental Disorders: Intellectual Disability and Epilepsy comorbidity in Pakistani population.

Mudassir

2022

Preprint

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• Background: The genetics of neurodevelopmental disorders is partially investigated due to the multiple additive risk factors found to be involved. Emergence of individual genes implicated across multiple diseases suggests that they might share similar underlying driving pathways. The CNTNAP2 gene is an excellent presentation, that has been found in a variety of phenotypes. The role of CNTNAP2 is implicated in a vast number of neural and genetic networks of neurodevelopment which leads to the understanding of regulation and function of this gene. The diverse roles of CNTNAP2 can enhance our understanding of how combinations of individual genetic risk factors can contribute to the complexity of neurodevelopmental disorders. • Methods: The present study aims to investigate the role of CNTNAP2 polymorphism as a risk factor for comorbidity of Intellectual Disability and epilepsy in Pakistani population. 170 patients and 175 healthy controls took part in this study from different areas of Pakistan. Genotyping using Tetra-primer ARMS PCR technique was conducted to investigate the association between rs147815978 (G/T) and rs2710102 (A/G) of CNTNAP2 gene and intellectual disability and epilepsy co-occurrence in patients of different age groups. • Results: The genotyping data was analysed to trace the effect of CNTNAP2 polymorphism on the comorbidity of ID and EPI diseases in study participants. Probability values less than 0.05 were considered significant for the association of CNTNAP2 rs147815978 and rs2710102. Results suggested a probable role of CNTNAP2 gene polymorphism predisposition to comorbidity of neurodevelopmental disorders in Pakistani population. • Conclusion: CNTNAP2 polymorphisms have a significant role in co-occurrence of NDDs due to the underlying shared molecular mechanisms causing neurodevelopment. • Trial Registration: Not Applicable for this study. Ethical approval from Ethical Review Committee of Department of Biosciences, Comsats University Islamabad campus was obtained prior to conduction of all procedures.

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“…The single-nucleotide polymorphism of CNTNAP2 is suggested to contribute to epileptic seizures and intellectual disabilities. (Shiota et al 2021) Current literature on the frequencies of these polymorphisms in different populations and their relation with co-occurrence of intellectual disability and epilepsy is still unclear. Therefore, the biological role of the CNTNAP2 gene in neurodevelopmental disorders is currently a study focus area.…”

Section: Introductionmentioning

confidence: 99%

CNTNAP2 Associated Neurodevelopmental Disorders: Intellectual Disability and Epilepsy comorbidity in Pakistani population.

Mudassir

2022

Preprint

View full text Add to dashboard Cite

· Background: The genetics of neurodevelopmental disorders is partially investigated due to the multiple additive risk factors found to be involved. Emergence of individual genes implicated across multiple diseases suggests that they might share similar underlying driving pathways. The CNTNAP2 gene is an excellent presentation, that has been found in a variety of phenotypes. The role of CNTNAP2 is implicated in a vast number of neural and genetic networks of neurodevelopment which leads to the understanding of regulation and function of this gene. The diverse roles of CNTNAP2 can enhance our understanding of how combinations of individual genetic risk factors can contribute to the complexity of neurodevelopmental disorders. · Methods: The present study aims to investigate the role of CNTNAP2 polymorphism as a risk factor for comorbidity of Intellectual Disability and epilepsy in Pakistani population. 170 patients and 175 healthy controls took part in this study from different areas of Pakistan. Genotyping using Tetra-primer ARMS PCR technique was conducted to investigate the association between rs147815978 (G/T) and rs2710102 (A/G) of CNTNAP2 gene and intellectual disability and epilepsy co-occurrence in patients of different age groups. · Results: The genotyping data was analysed to trace the effect of CNTNAP2polymorphism on the comorbidity of ID and EPI diseases in study participants. Probability values less than 0.05 were considered significant for the association of CNTNAP2 rs147815978 and rs2710102. Results suggested a probable role of CNTNAP2 gene polymorphism predisposition to comorbidity of neurodevelopmental disorders in Pakistani population. · Conclusion: CNTNAP2 polymorphisms have a significant role in co-occurrence of NDDs due to the underlying shared molecular mechanisms causing neurodevelopment. · Trial Registration: Not Applicable for this study. Ethical approval from Ethical Review Committee of Department of Biosciences, Comsats University Islamabad campus was obtained prior to conduction of all procedures.

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A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability

Cited by 10 publications

References 57 publications

Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay

Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay

CNTNAP2 Associated Neurodevelopmental Disorders: Intellectual Disability and Epilepsy comorbidity in Pakistani population.

CNTNAP2 Associated Neurodevelopmental Disorders: Intellectual Disability and Epilepsy comorbidity in Pakistani population.

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