| 1 |
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy
|
|
Piero Pavone, Martino Ruggieri, Simona D Marino, Giovanni Corsello, Xena Pappalardo, Agata Polizzi, Enrico Parano, Catia Romano, Silvia Marino, Andrea Domenico Praticò, Raffaele Falsaperla. - 2020
|
|
BASE
|
|
Show details
|
|
|
| 2 |
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
|
|
|
|
In: Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8 (2019)
|
|
BASE
|
|
Show details
|
|
|
| 3 |
Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder.
|
|
Berg, Elizabeth L; Copping, Nycole A; Rivera, Josef K; Pride, Michael C; Careaga, Milo; Bauman, Melissa D; Berman, Robert F; Lein, Pamela J; Harony-Nicolas, Hala; Buxbaum, Joseph D; Ellegood, Jacob; Lerch, Jason P; Wöhr, Markus; Silverman, Jill L
|
|
In: Autism research : official journal of the International Society for Autism Research, vol 11, iss 4 (2018)
|
|
Abstract:
Mutations in the SHANK3 gene have been discovered in autism spectrum disorder (ASD), and the intellectual disability, Phelan-McDermid Syndrome. This study leveraged a new rat model of Shank3 deficiency to assess complex behavioral phenomena, unique to rats, which display a richer social behavior repertoire than mice. Uniquely detectable emissions of ultrasonic vocalizations (USV) in rats serve as situation-dependent affective signals and accomplish important communicative functions. We report, for the first time, a call and response acoustic playback assay of bidirectional social communication in juvenile Shank3 rats. Interestingly, we found that Shank3-deficient null males did not demonstrate the enhanced social approach behavior typically exhibited following playback of pro-social USV. Concomitantly, we discovered that emission of USV in response to playback was not genotype-dependent and emitted response calls were divergent in meaning. This is the first report of these socially relevant responses using a genetic model of ASD. A comprehensive and empirical analysis of vigorous play during juvenile reciprocal social interactions further revealed fewer bouts and reduced durations of time spent playing by multiple key parameters, including reduced anogenital sniffing and allogrooming. We further discovered that male null Shank3-deficient pups emitted fewer isolation-induced USV than Shank3 wildtype controls. Postnatal whole brain anatomical phenotyping was applied to visualize anatomical substrates that underlie developmental phenotypes. The data presented here lend support for the important role of Shank3 in social communication, the core symptom domain of ASD. By increasing the number of in vivo functional outcome measures, we improved the likelihood for identifying and moving forward with medical interventions. Autism Res 2018, 11: 587-601. © 2018 International Society for Autism Research, Wiley Periodicals, Inc.Lay summaryClinically relevant outcomes are required to demonstrate the utility of therapeutics. We introduce findings in a rat model, and assess the impact of mutations in Shank3, an autism risk gene. We found that males with deficient expression of Shank3 did not demonstrate typical responses in a bi-directional social communication test and that social interaction was lower on key parameters. Outcome measures reported herein extend earlier results in mice and capture responses to acoustic calls, which is analogous to measuring receptive and expressive communication.
|
|
Keyword:
2.1 Biological and endogenous factors; Age Factors; Animal; animal model; Animals; autism; Autism Spectrum Disorder; Basic Behavioral and Social Science; behavior; Behavioral and Social Science; Brain Disorders; Chromosome Deletion; Chromosome Disorders; Chromosomes; Clinical Sciences; Communication; Developmental & Child Psychology; Disease Models; DNA Mutational Analysis; Exploratory Behavior; Gene Deletion; Genetic; Human; Intellectual and Developmental Disabilities; Interpersonal Relations; Male; Mental Health; Models; Nerve Tissue Proteins; neurodevelopment; Neurosciences; Pair 22; Pediatric; Phelan McDermid Syndrome; Phenotype; Play and Playthings; Psychology; Rats; shank; social; Social Behavior; synapse; Vocalization
|
|
URL: https://escholarship.org/uc/item/0gn9h5cf
|
|
BASE
|
|
Hide details
|
|
|
| 4 |
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
|
|
|
|
In: Jama Psychiatry, vol. 73, no. 1, pp. 20-30 (2016)
|
|
BASE
|
|
Show details
|
|
|
| 5 |
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.
|
|
|
|
In: Biological psychiatry, vol. 80, no. 2, pp. 129-139 (2016)
|
|
BASE
|
|
Show details
|
|
|
| 6 |
Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.
|
|
|
|
In: J Neurol Neurosurg Psychiatry , 84 (11) 1255 - 1257. (2013) (2013)
|
|
BASE
|
|
Show details
|
|
|
| 7 |
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
|
|
|
|
In: Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668 (2012)
|
|
BASE
|
|
Show details
|
|
|
| 8 |
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
|
|
|
|
In: ISSN: 0022-2593 ; EISSN: 1468-6244 ; Journal of Medical Genetics ; https://hal.archives-ouvertes.fr/hal-02128729 ; Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (6), pp.377-384. ⟨10.1136/jmg.2009.071902⟩ (2010)
|
|
BASE
|
|
Show details
|
|
|
| 9 |
Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.
|
|
|
|
BASE
|
|
Show details
|
|
|
| 10 |
1.3 Mb de novo Deletion in Chromosome Band 3q29 Associated with Normal Intelligence in a Child
|
|
|
|
In: DTIC (2010)
|
|
BASE
|
|
Show details
|
|
|
| 11 |
A specific pathway can be identified between genetic characteristics and behaviour profiles in Prader-Willi syndrome via cognitive, environmental and physiological mechanisms.
|
|
|
|
In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2009)
|
|
BASE
|
|
Show details
|
|
|
| 12 |
Detection, breakpoint identification and detailed characterisation of a CNV at the FRA16D site using SNP assays.
|
|
|
|
In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2008)
|
|
BASE
|
|
Show details
|
|
|
| 13 |
Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy
|
|
|
|
BASE
|
|
Show details
|
|
|
| 14 |
Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits.
|
|
|
|
In: Cytogenetic and genome research, vol 98, iss 4 (2002)
|
|
BASE
|
|
Show details
|
|
|
| 15 |
The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder.
|
|
|
|
In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2000)
|
|
BASE
|
|
Show details
|
|
|
|
|
