Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic

Advancing diagnosis and management of liver disease in adults through exome sequencing

“… 44 Furthermore, our findings align with other studies where the diagnostic utility of WES in adult cohorts was independent of a positive family history. 45 , 46 WES curtails the number of unexplained liver disease cases and facilitates a precise diagnosis within pre-genomic broad categories of liver disease, enhancing clinical care.…”

The neurodevelopmental spectrum seen with CHD2 variants

“…4,6 Variants in CHD2 are not infrequently seen in adult psychiatric patients with or without intellectual disability and ASD, with genetic positivity predicting a higher probability of seizures. 6 De novo CHD2 mutations account for approximately 1.2% of all epileptic encephalopathy cases, 7 with developmental delay, and behavioral problems. 3,8 DOI: 10.1002/ped4.12323…”

“…CHD2 pathogenic variants more recently have been associated with treatment‐resistant adult‐onset epilepsy 5 . CHD2 variants are also associated with neurodevelopmental disorders such as autism spectrum disorder (ASD), and attention deficit hyperactivity disorder (ADHD) with and without epilepsy 4,6 . Variants in CHD2 are not infrequently seen in adult psychiatric patients with or without intellectual disability and ASD, with genetic positivity predicting a higher probability of seizures 6 .…”

“…CHD2 variants are also associated with neurodevelopmental disorders such as autism spectrum disorder (ASD), and attention deficit hyperactivity disorder (ADHD) with and without epilepsy 4,6 . Variants in CHD2 are not infrequently seen in adult psychiatric patients with or without intellectual disability and ASD, with genetic positivity predicting a higher probability of seizures 6 . De novo CHD2 mutations account for approximately 1.2% of all epileptic encephalopathy cases, 7 with developmental delay, and behavioral problems 3,8 …”