Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
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.
в: Genes, Том 11, № 8, 853, 08.2020.Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
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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