Literaturnachweis - Detailanzeige
| Autor/inn/en | Lumish, Heidi S.; Wynn, Julia; Devinsky, Orrin; Chung, Wendy K. |
|---|---|
| Titel | Brief Report: "SETD2" Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy |
| Quelle | In: Journal of Autism and Developmental Disorders, 45 (2015) 11, S.3764-3770 (7 Seiten)
PDF als Volltext |
| Sprache | englisch |
| Dokumenttyp | gedruckt; online; Zeitschriftenaufsatz |
| ISSN | 0162-3257 |
| DOI | 10.1007/s10803-015-2484-8 |
| Schlagwörter | Autism; Pervasive Developmental Disorders; Intellectual Disability; Epilepsy; Genetics; Adolescents; Females; Developmental Delays; Seizures |
| Abstract | Whole exome sequencing (WES) has been utilized with increasing frequency to identify mutations underlying rare diseases. Autism spectrum disorders (ASD) and intellectual disability (ID) are genetically heterogeneous, and novel genes for these disorders are rapidly being identified, making these disorders ideal candidates for WES. Here we report a 17-year-old girl with ASD, developmental delay, ID, seizures, Chiari I malformation, macrocephaly, and short stature. She was found by WES to have a de novo c.2028delT (P677LfsX19) mutation in the SET domain-containing protein 2 ("SETD2") gene, predicted to be gene-damaging. This case offers evidence for the potential the role of "SETD2" in ASD and ID and provides further detail about the phenotypic manifestations of mutations in "SETD2." (As Provided). |
| Anmerkungen | Springer. 233 Spring Street, New York, NY 10013. Tel: 800-777-4643; Tel: 212-460-1500; Fax: 212-348-4505; e-mail: service-ny@springer.com; Web site: http://www.springerlink.com |
| Erfasst von | ERIC (Education Resources Information Center), Washington, DC |
| Update | 2020/1/01 |
Literaturbeschaffung und Bestandsnachweise in Bibliotheken prüfen
Permalink als QR-Code
Inhalt auf sozialen Plattformen teilen (nur vorhanden, wenn Javascript eingeschaltet ist)
Teile diese Seite:
