Next generation sequencing of 134 children with autism spectrum disorder and regression

Standard

Next generation sequencing of 134 children with autism spectrum disorder and regression. / Yin, Jiani; Chun, Chun An; Zavadenko, Nikolay N.; Pechatnikova, Natalia L.; Naumova, Oxana Yu.; Doddapaneni, Harsha V.; Hu, Jianhong; Muzny, Donna M.; Schaaf, Christian P.; Grigorenko, Elena L.

In: Genes, Vol. 11, No. 8, 853, 08.2020.

Research output: Contribution to journal › Article › peer-review

Author

Yin, Jiani ; Chun, Chun An ; Zavadenko, Nikolay N. ; Pechatnikova, Natalia L. ; Naumova, Oxana Yu. ; Doddapaneni, Harsha V. ; Hu, Jianhong ; Muzny, Donna M. ; Schaaf, Christian P. ; Grigorenko, Elena L. / Next generation sequencing of 134 children with autism spectrum disorder and regression. In: Genes. 2020 ; Vol. 11, No. 8.

BibTeX

@article{a48322059c124043ace1c047f23b69a3,

title = "Next generation sequencing of 134 children with autism spectrum disorder and regression",

abstract = "Approximately 30% of individuals with autism spectrum disorder (ASD) experience developmental regression, the etiology of which remains largely unknown. We performed a complete literature search and identified 47 genes that had been implicated in such cases. We sequenced these genes in a preselected cohort of 134 individuals with regressive autism. In total, 16 variants in 12 genes with evidence supportive of pathogenicity were identified. They were classified as variants of uncertain significance based on ACMG standards and guidelines. Among these were recurring variants in GRIN2A and PLXNB2, variants in genes that were linked to syndromic forms of ASD (GRIN2A, MECP2, CDKL5, SCN1A, PCDH19, UBE3A, and SLC9A6), and variants in the form of oligogenic heterozygosity (EHMT1, SLC9A6, and MFSD8).",

keywords = "ACMG standards and guidelines, Autism, Developmental regression, Exon capture and sequencing, Variant classification, variant classification, ENCEPHALOPATHIES, NETWORK, PHENOTYPE, exon capture and sequencing, PATTERNS, developmental regression, autism, DEFICIENCY, SEIZURES, DE-NOVO MUTATIONS, GENE, EPILEPSY, EXPRESSION",

author = "Jiani Yin and Chun, {Chun An} and Zavadenko, {Nikolay N.} and Pechatnikova, {Natalia L.} and Naumova, {Oxana Yu.} and Doddapaneni, {Harsha V.} and Jianhong Hu and Muzny, {Donna M.} and Schaaf, {Christian P.} and Grigorenko, {Elena L.}",

note = "Yin, J.; Chun, C.-A.; Zavadenko, N.N.; Pechatnikova, N.L.; Naumova, O.Y.; Doddapaneni, H.V.; Hu, J.; Muzny, D.M.; Schaaf, C.P.; Grigorenko, E.L. Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. Genes 2020, 11, 853.",

year = "2020",

month = aug,

doi = "10.3390/genes11080853",

language = "English",

volume = "11",

journal = "Genes",

issn = "2073-4425",

publisher = "MDPI AG",

number = "8",

}

RIS

TY - JOUR

T1 - Next generation sequencing of 134 children with autism spectrum disorder and regression

AU - Yin, Jiani

AU - Chun, Chun An

AU - Zavadenko, Nikolay N.

AU - Pechatnikova, Natalia L.

AU - Naumova, Oxana Yu.

AU - Doddapaneni, Harsha V.

AU - Hu, Jianhong

AU - Muzny, Donna M.

AU - Schaaf, Christian P.

AU - Grigorenko, Elena L.

N1 - Yin, J.; Chun, C.-A.; Zavadenko, N.N.; Pechatnikova, N.L.; Naumova, O.Y.; Doddapaneni, H.V.; Hu, J.; Muzny, D.M.; Schaaf, C.P.; Grigorenko, E.L. Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. Genes 2020, 11, 853.

PY - 2020/8

Y1 - 2020/8

N2 - Approximately 30% of individuals with autism spectrum disorder (ASD) experience developmental regression, the etiology of which remains largely unknown. We performed a complete literature search and identified 47 genes that had been implicated in such cases. We sequenced these genes in a preselected cohort of 134 individuals with regressive autism. In total, 16 variants in 12 genes with evidence supportive of pathogenicity were identified. They were classified as variants of uncertain significance based on ACMG standards and guidelines. Among these were recurring variants in GRIN2A and PLXNB2, variants in genes that were linked to syndromic forms of ASD (GRIN2A, MECP2, CDKL5, SCN1A, PCDH19, UBE3A, and SLC9A6), and variants in the form of oligogenic heterozygosity (EHMT1, SLC9A6, and MFSD8).

AB - Approximately 30% of individuals with autism spectrum disorder (ASD) experience developmental regression, the etiology of which remains largely unknown. We performed a complete literature search and identified 47 genes that had been implicated in such cases. We sequenced these genes in a preselected cohort of 134 individuals with regressive autism. In total, 16 variants in 12 genes with evidence supportive of pathogenicity were identified. They were classified as variants of uncertain significance based on ACMG standards and guidelines. Among these were recurring variants in GRIN2A and PLXNB2, variants in genes that were linked to syndromic forms of ASD (GRIN2A, MECP2, CDKL5, SCN1A, PCDH19, UBE3A, and SLC9A6), and variants in the form of oligogenic heterozygosity (EHMT1, SLC9A6, and MFSD8).

KW - ACMG standards and guidelines

KW - Autism

KW - Developmental regression

KW - Exon capture and sequencing

KW - Variant classification

KW - variant classification

KW - ENCEPHALOPATHIES

KW - NETWORK

KW - PHENOTYPE

KW - exon capture and sequencing

KW - PATTERNS

KW - developmental regression

KW - autism

KW - DEFICIENCY

KW - SEIZURES

KW - DE-NOVO MUTATIONS

KW - GENE

KW - EPILEPSY

KW - EXPRESSION

UR - http://www.scopus.com/inward/record.url?scp=85088812350&partnerID=8YFLogxK

UR - https://www.mendeley.com/catalogue/b36abad1-5620-3450-8efc-5a50f0b5bde1/

U2 - 10.3390/genes11080853

DO - 10.3390/genes11080853

M3 - Article

C2 - 32722525

AN - SCOPUS:85088812350

VL - 11

JO - Genes

JF - Genes

SN - 2073-4425

IS - 8

M1 - 853

ER -

ID: 62764830