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in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : Phelan-McDermid Syndrome: Clinical Aspects Type de document : Texte imprimé et/ou numérique Auteurs : Katy PHELAN, Auteur ; Luigi BOCCUTO, Auteur ; Sara SARASUA, Auteur Année de publication : 2016 Importance : p.347-364 Langues : Anglais (eng) Mots-clés : 22q13 deletion Absent speech Autism Dysplastic toenails Hypotonia Intellectual impairment Phelan–McDermid SHANK3 Speech delay Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Phelan–McDermid syndrome (PMS), also known as the 22q13 deletion syndrome, is a genetic condition characterized by neonatal hypotonia, developmental delay, absent or impaired speech, and minor dysmorphic features. PMS typically results from a deletion of the distal long arm of chromosome 22, with the size of the deleted segment ranging from less than 100 kb to greater than 9 MB. The loss of 22q13 may result from a terminal deletion, an interstitial deletion, an unbalanced translocation, formation of a ring chromosome, or other types of structural chromosome aberrations. In most cases, the deletion results in haploinsufficiency for the SHANK3 gene which codes for a scaffolding protein in the postsynaptic density of excitatory neurons. Mutation or disruption of the SHANK3 gene may also result in PMS. The diagnosis of PMS relies on laboratory confirmation by molecular cytogenetic or molecular genetic methods. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00021-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Phelan-McDermid Syndrome: Clinical Aspects [Texte imprimé et/ou numérique] / Katy PHELAN, Auteur ; Luigi BOCCUTO, Auteur ; Sara SARASUA, Auteur . - 2016 . - p.347-364.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : 22q13 deletion Absent speech Autism Dysplastic toenails Hypotonia Intellectual impairment Phelan–McDermid SHANK3 Speech delay Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Phelan–McDermid syndrome (PMS), also known as the 22q13 deletion syndrome, is a genetic condition characterized by neonatal hypotonia, developmental delay, absent or impaired speech, and minor dysmorphic features. PMS typically results from a deletion of the distal long arm of chromosome 22, with the size of the deleted segment ranging from less than 100 kb to greater than 9 MB. The loss of 22q13 may result from a terminal deletion, an interstitial deletion, an unbalanced translocation, formation of a ring chromosome, or other types of structural chromosome aberrations. In most cases, the deletion results in haploinsufficiency for the SHANK3 gene which codes for a scaffolding protein in the postsynaptic density of excitatory neurons. Mutation or disruption of the SHANK3 gene may also result in PMS. The diagnosis of PMS relies on laboratory confirmation by molecular cytogenetic or molecular genetic methods. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00021-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism / Steven KLEIN in Autism Research, 6-1 (February 2013)
[article]
Titre : Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism Type de document : Texte imprimé et/ou numérique Auteurs : Steven KLEIN, Auteur ; Pantea SHARIFI-HANNAUER, Auteur ; Julian A. MARTINEZ-AGOSTO, Auteur Année de publication : 2013 Article en page(s) : p.51-56 Langues : Anglais (eng) Mots-clés : autism macrocephaly PTEN overgrowth hypotonia Index. décimale : PER Périodiques Résumé : An association between autism and macrocephaly has been previously described. A subset of cases with extreme macrocephaly (3 standard deviation [SD], 99.7th percentile) have been correlated to mutations in the gene phosphatase and tensin homolog (PTEN). However, the phenotypic and genetic characterization of the remaining cases remains unclear. We report the phenotypic classification and genetic testing evaluation of a cohort of 33 patients with autism and macrocephaly. Within our cohort, we confirm the association of PTEN mutations and extreme macrocephaly (3 SD, 99.7th percentile) and identify mutations in 22% of cases, including three novel PTEN mutations. In addition, we define three phenotypic subgroups: (a) those cases associated with somatic overgrowth, (b) those with disproportionate macrocephaly, and (c) those with relative macrocephaly. We have devised a novel way to segregate patients into these subgroups that will aide in the stratification of autism macrocephaly cases. Within these subgroups, we further expand the genetic etiologies for autism cases with macrocephaly by describing two novel suspected pathogenic copy number variants located at 6q23.2 and 10q24.32. These findings demonstrate the phenotypic heterogeneity of autism cases associated with macrocephaly and their genetic etiologies. The clinical yield from PTEN mutation analysis is 22% and 9% from chromosomal microarray (CMA) testing within this cohort. The identification of three distinct phenotypic subgroups within macrocephaly autism patients may allow for the identification of their respective distinct genetic etiologies that to date have remained elusive. En ligne : http://dx.doi.org/10.1002/aur.1266 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192
in Autism Research > 6-1 (February 2013) . - p.51-56[article] Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism [Texte imprimé et/ou numérique] / Steven KLEIN, Auteur ; Pantea SHARIFI-HANNAUER, Auteur ; Julian A. MARTINEZ-AGOSTO, Auteur . - 2013 . - p.51-56.
Langues : Anglais (eng)
in Autism Research > 6-1 (February 2013) . - p.51-56
Mots-clés : autism macrocephaly PTEN overgrowth hypotonia Index. décimale : PER Périodiques Résumé : An association between autism and macrocephaly has been previously described. A subset of cases with extreme macrocephaly (3 standard deviation [SD], 99.7th percentile) have been correlated to mutations in the gene phosphatase and tensin homolog (PTEN). However, the phenotypic and genetic characterization of the remaining cases remains unclear. We report the phenotypic classification and genetic testing evaluation of a cohort of 33 patients with autism and macrocephaly. Within our cohort, we confirm the association of PTEN mutations and extreme macrocephaly (3 SD, 99.7th percentile) and identify mutations in 22% of cases, including three novel PTEN mutations. In addition, we define three phenotypic subgroups: (a) those cases associated with somatic overgrowth, (b) those with disproportionate macrocephaly, and (c) those with relative macrocephaly. We have devised a novel way to segregate patients into these subgroups that will aide in the stratification of autism macrocephaly cases. Within these subgroups, we further expand the genetic etiologies for autism cases with macrocephaly by describing two novel suspected pathogenic copy number variants located at 6q23.2 and 10q24.32. These findings demonstrate the phenotypic heterogeneity of autism cases associated with macrocephaly and their genetic etiologies. The clinical yield from PTEN mutation analysis is 22% and 9% from chromosomal microarray (CMA) testing within this cohort. The identification of three distinct phenotypic subgroups within macrocephaly autism patients may allow for the identification of their respective distinct genetic etiologies that to date have remained elusive. En ligne : http://dx.doi.org/10.1002/aur.1266 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192 Modeling Autism Spectrum Disorders Motor Deficits in Mice / Pierre L. ROUBERTOUX
Titre : Modeling Autism Spectrum Disorders Motor Deficits in Mice Type de document : Texte imprimé et/ou numérique Auteurs : Pierre L. ROUBERTOUX, Auteur ; Catherine BARTOLI, Auteur Année de publication : 2015 Importance : p.371-395 Langues : Anglais (eng) Mots-clés : Sensorial and motor development Gait Hypotonia Balance Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=265 Modeling Autism Spectrum Disorders Motor Deficits in Mice [Texte imprimé et/ou numérique] / Pierre L. ROUBERTOUX, Auteur ; Catherine BARTOLI, Auteur . - 2015 . - p.371-395.
Langues : Anglais (eng)
Mots-clés : Sensorial and motor development Gait Hypotonia Balance Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=265 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire