Molecular Diagnostic Testing, including Whole-Exome Sequencing, in Children with Autism Spectrum Disorder

CLAHRC WM News Blog features articles of generic, rather than specific, interest. The general interest here lies in the use of molecular techniques to unravel the mechanisms of diseases, especially neurological diseases, that are inaccessible to study in other ways.
A study of 258 consecutively ascertained children with ASD was recently reported in JAMA.[1] The incidence of genetic abnormalities was low (about 6%) in ASD children with no morphological abnormalities, but unsurprisingly reached much higher levels (38%) when complex morphological abnormalities were present. To the CLAHRC WM Director this finding suggests that ASD, when not associated with atypical physical features, is seldom caused by embryonic de novo or inherited genetic disorder. But could it be caused by propagation of a clone of neurons with a new mutation derived during the first wave of brain remodelling in utero?[2] [3]

— Richard Lilford, CLAHRC WM Director

Reference:

1. Tammimies K, Marshall CR, Walker S, et al. Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children with Autism Spectrum Disorder. JAMA. 2015; 314(9): 895-903.
2. Lilford R. An hypothesis on the cause of many chronic neurological conditions, such as schizophrenia and Alzheimer’s disease. January 18 2013.
3. Lilford R. Biological mechanism of generalised brain disease such as Alzheimer’s disease and schizophrenia. March 1 2013.