Ahmet O Caglayan1. 1. Kayseri Education and Research Hospital, Department of Medical Genetics, Kayseri, Turkey. aocaglayan@erciyes.edu.tr
Abstract
AIMS: Over the past decade, genetic tests have become available for numerous heritable disorders, especially those whose inheritance follows the Mendelian model. Autism spectrum disorders (ASDs) represent a group of developmental disorders with a strong genetic basis. During the past few years, genetic research in ASDs has been successful in identifying several vulnerability loci and a few cytogenetic abnormalities or single-base mutations implicated in the causation of autism. METHOD: In this study the literature was reviewed to highlight genotype-phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. RESULTS: Based on this knowledge, practical information is offered to help clinicians pursue targeted genetic testing of individuals with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology. INTERPRETATION: Comprehensive research into the molecular mechanism of autism is required to aid the development of disease-specific targeted therapies. In order to transfer this recently acquired knowledge into clinical practice, it is critical to define a set of phenotypic inclusion criteria that must be met by affected probands to justify their enrolment in a specific genetic testing programme.
AIMS: Over the past decade, genetic tests have become available for numerous heritable disorders, especially those whose inheritance follows the Mendelian model. Autism spectrum disorders (ASDs) represent a group of developmental disorders with a strong genetic basis. During the past few years, genetic research in ASDs has been successful in identifying several vulnerability loci and a few cytogenetic abnormalities or single-base mutations implicated in the causation of autism. METHOD: In this study the literature was reviewed to highlight genotype-phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. RESULTS: Based on this knowledge, practical information is offered to help clinicians pursue targeted genetic testing of individuals with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology. INTERPRETATION: Comprehensive research into the molecular mechanism of autism is required to aid the development of disease-specific targeted therapies. In order to transfer this recently acquired knowledge into clinical practice, it is critical to define a set of phenotypic inclusion criteria that must be met by affected probands to justify their enrolment in a specific genetic testing programme.
Authors: Kristel T E Kleijer; Michael J Schmeisser; Dilja D Krueger; Tobias M Boeckers; Peter Scheiffele; Thomas Bourgeron; Nils Brose; J Peter H Burbach Journal: Psychopharmacology (Berl) Date: 2014-01-14 Impact factor: 4.530
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