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Auteur Susan L. CHRISTIAN |
Documents disponibles écrits par cet auteur (1)
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Copy number and sequence variants implicate APBA2 as an autism candidate gene / Timothy D. BABATZ in Autism Research, 2-6 (December 2009)
[article]
Titre : Copy number and sequence variants implicate APBA2 as an autism candidate gene Type de document : Texte imprimé et/ou numérique Auteurs : Timothy D. BABATZ, Auteur ; Ravinesh A. KUMAR, Auteur ; Jyotsna SUDI, Auteur ; William B. DOBYNS, Auteur ; Susan L. CHRISTIAN, Auteur Année de publication : 2009 Article en page(s) : p.359-364 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : We recently reported an autistic proband and affected sibling with maternally inherited microduplications within the 15q13.1 and 15q13.3 regions that contain a total of 4 genes. The amyloid precursor protein-binding protein A2 (APBA2) gene is located within the 15q13.1 duplication and encodes a neuronal adaptor protein essential to synaptic transmission that interacts directly with NRXN1 at the presynaptic membrane. We interpreted this as evidence for a putative role of APBA2 in autism as larger maternal duplications of 15q11-q13 are the most common known cause of autism. We therefore resequenced 512 subjects with autism spectrum disorder (ASD) and 463 controls, and identified 7 novel nonsynonymous coding variants in ASD subjects compared with 4 in controls. Five of the seven variants in the ASD group were predicted to affect protein function, alter residues conserved across 18 species, or both. All of the variants for which parental DNA was available were inherited. We also found two different nonsynonymous variants in two siblings with autism: (1) a paternally inherited heterozygous 6 bp deletion and (2) a maternally inherited heterozygous missense mutation, the latter also found in a single control. These results indicate compound heterozygous mutations of APBA2 in this autism sibship. The co-occurrence of two nonsynonymous mutations in both affected siblings in a single family, each transmitted from a different unaffected parent, suggest a role for APBA2 mutations in rare individuals with ASD. En ligne : http://dx.doi.org/10.1002/aur.107 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=968
in Autism Research > 2-6 (December 2009) . - p.359-364[article] Copy number and sequence variants implicate APBA2 as an autism candidate gene [Texte imprimé et/ou numérique] / Timothy D. BABATZ, Auteur ; Ravinesh A. KUMAR, Auteur ; Jyotsna SUDI, Auteur ; William B. DOBYNS, Auteur ; Susan L. CHRISTIAN, Auteur . - 2009 . - p.359-364.
Langues : Anglais (eng)
in Autism Research > 2-6 (December 2009) . - p.359-364
Index. décimale : PER Périodiques Résumé : We recently reported an autistic proband and affected sibling with maternally inherited microduplications within the 15q13.1 and 15q13.3 regions that contain a total of 4 genes. The amyloid precursor protein-binding protein A2 (APBA2) gene is located within the 15q13.1 duplication and encodes a neuronal adaptor protein essential to synaptic transmission that interacts directly with NRXN1 at the presynaptic membrane. We interpreted this as evidence for a putative role of APBA2 in autism as larger maternal duplications of 15q11-q13 are the most common known cause of autism. We therefore resequenced 512 subjects with autism spectrum disorder (ASD) and 463 controls, and identified 7 novel nonsynonymous coding variants in ASD subjects compared with 4 in controls. Five of the seven variants in the ASD group were predicted to affect protein function, alter residues conserved across 18 species, or both. All of the variants for which parental DNA was available were inherited. We also found two different nonsynonymous variants in two siblings with autism: (1) a paternally inherited heterozygous 6 bp deletion and (2) a maternally inherited heterozygous missense mutation, the latter also found in a single control. These results indicate compound heterozygous mutations of APBA2 in this autism sibship. The co-occurrence of two nonsynonymous mutations in both affected siblings in a single family, each transmitted from a different unaffected parent, suggest a role for APBA2 mutations in rare individuals with ASD. En ligne : http://dx.doi.org/10.1002/aur.107 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=968