دورية أكاديمية
From de novo mutations to personalized therapeutic interventions in autism.
| العنوان: | From de novo mutations to personalized therapeutic interventions in autism. |
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| المؤلفون: | Brandler WM; Beyster Center for Genomics of Psychiatric Diseases., Sebat J |
| المصدر: | Annual review of medicine [Annu Rev Med] 2015; Vol. 66, pp. 487-507. |
| نوع المنشور: | Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Annual Reviews Country of Publication: United States NLM ID: 2985151R Publication Model: Print Cited Medium: Internet ISSN: 1545-326X (Electronic) Linking ISSN: 00664219 NLM ISO Abbreviation: Annu Rev Med Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Palo Alto Ca : Annual Reviews Original Publication: Palo Alto, Calif., Annual Reviews, inc. |
| مواضيع طبية MeSH: | Child Development Disorders, Pervasive/*genetics , Precision Medicine/*methods, Child Development Disorders, Pervasive/therapy ; DNA Copy Number Variations ; Genetic Predisposition to Disease ; Genetic Testing ; Genotype ; Humans ; Mutation ; Phenotype ; Sequence Analysis, DNA |
| مستخلص: | The high heritability, early age at onset, and reproductive disadvantages of autism spectrum disorders (ASDs) are consistent with an etiology composed of dominant-acting de novo (spontaneous) mutations. Mutation detection by microarray analysis and DNA sequencing has confirmed that de novo copy-number variants or point mutations in protein-coding regions of genes contribute to risk, and some of the underlying causal variants and genes have been identified. As our understanding of autism genes develops, the spectrum of autism is breaking up into quanta of many different genetic disorders. Given the diversity of etiologies and underlying biochemical pathways, personalized therapy for ASDs is logical, and clinical genetic testing is a prerequisite. |
| معلومات مُعتمدة: | R01 MH076431 United States MH NIMH NIH HHS |
| فهرسة مساهمة: | Keywords: Rett syndrome; autism spectrum disorder; clinical trials; copy-number variation; fragile X syndrome; genomics; metabolic disorders; mouse models; whole-genome sequencing |
| تواريخ الأحداث: | Date Created: 20150115 Date Completed: 20150914 Latest Revision: 20161025 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1146/annurev-med-091113-024550 |
| PMID: | 25587659 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1545-326X |
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| DOI: | 10.1146/annurev-med-091113-024550 |