CHD8 intragenic deletion associated with autism spectrum disorder
Original research article by E.S. Stolerman et al. (2016).
Read the abstract here.
The work presented in this article adds to evidence that changes in the CHD8 gene can play a major role in autism. The researchers describe the clinical features observed in a 9-year-old boy with a de novo (not inherited from either parent) change in the CHD8 gene. The investigators reviewed his medical history, beginning before birth, and generated a time line detailing concerns identified through his childhood.
The child’s early history was typical: he was born at full term, and there were no prenatal complications or major postnatal complications. Typical development behaviors, like making eye contact and otherwise interacting, continued until 9 months of age. At that time, the child stopped making good eye contact and became irritable, crying regularly. He also had delays in developmental milestones. For example, he did not sit until 9 months of age and did not begin walking until 18 months of age. An evaluation of his hearing at 23 months of age showed no abnormalities. At just over 2 years old, it was noted that his speech was not progressing typically and that his social interactions included aggressive behavior, poor eye contact and repetitive behaviors. Common features of the CHD8 change that were observed in this child included gastrointestinal issues, increased head size, and dysmorphic features, while his height, weight, and head circumference were all normal for his age.
The authors provide a comparison of this 9-year-old boy and 18 other children and adults with CHD8 changes. The tables below lists the features seen in each of these 19 people.
|Mutation||Exons 26-28 Deletion||Nonsense||Deletion truncating||Splice site||Frameshift indel|
|Inheritance||De novo||De novo||De novo||De novo||De novo|
|Gastrointestinal||Diarrhea, GERD, Eosinophilic Esophagitis, Duodenitis||Constipation, Abdominal pain||Constipation||N/A||Chronic diarrhea|
|Inheritance||De novo||N/A||De novo||N/A||N/A|
|Gastrointestinal||Chronic constipation and loose stool||Constipation, Diarrhea||None||None||None|
|Inheritance||N/A||N/A||De novo||Inherited maternal||Inherited paternal|
|Gastrointestinal||None||N/A||Constipation, Dyschezia||None||Diarrhea, Constipation|
|Mutation||Frameshift||Frameshift||Deletion single a.a.||Frameshift|
|Inheritance||Inherited maternal||De novo||Unknown||De novo|