Orphan Gene Linked to Neurodevelopmental Disorder Characterized by Hearing Loss
Through a sequencing screen of patients, researchers identified biallelic variants in SPATA5L1 that were associated with hearing loss, intellectual disability, and epilepsy.
ACMG Recommends Sequencing as Test for Children With Intellectual Disability, Congenital Anomalies
An American College of Medical Genetics and Genomics working group conducted a systematic review of the literature to develop its recommendation.
The clinical genome-wide DNA methylation test can diagnose genetic diseases that are missed by exome or genome sequencing and evaluate variants of unknown significance.
Autism, Developmental Delay Gene Candidates Compiled From De Novo Variant, CNV Data
Researchers found 253 candidate disease genes, based on 10,927 exomes from patients with autism spectrum disorder, developmental delay, or intellectual disability.
In the long run, genome-wide DNA methylation profiling could be useful in diagnosing constitutional disorders as well as cancer.