Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist

被引：102
|
作者：
Lintas, C.
Persico, A. M. [1 ]
机构：
[1] Univ Campus Biomed, Lab Mol Psychiat & Neurogenet, I-00128 Rome, Italy
来源：
JOURNAL OF MEDICAL GENETICS | 2009年 / 46卷 / 01期
关键词：
HEAD CIRCUMFERENCE; RETT-SYNDROME; SPECTRUM DISORDERS; MUTATION ANALYSIS; NEUROLIGIN GENES; MECP2; GENE; SYNAPTIC-TRANSMISSION; STRUCTURAL VARIANTS; CODING SEQUENCE; HIGH-FREQUENCY;
D O I：
10.1136/jmg.2008.060871
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype-phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. Based on this information, a set of practical guidelines is proposed to help clinical geneticists pursue targeted genetic testing for patients with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology.
引用
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页码：1 / 8
页数：8
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