Aug 19, 2014

Clinical whole exome sequencing in child neurology practice

Annals of Neurology
Siddharth SrivastavaAli Fatemi


Whole exome sequencing (WES) represents a significant breakthrough in clinical genetics as a powerful tool for etiological discovery in neurodevelopmental disorders. To better characterize the genetic landscape of neurodevelopmental disorders, we analyzed patients in our pediatric neurogenetics clinic who underwent WES. We performed a retrospective cohort study on 78 patients with various neurodevelopmental disabilities and unrevealing workup prior to WES. We characterized their molecular diagnoses, clinical features, and whether their previous treatment plan changed due to WES results. The overall presumptive diagnostic rate for our cohort was 41% (n = 32 of 78 patients). Nineteen patients had a single autosomal dominant (AD) disorder, 11 had a single autosomal recessive (AR) disorder, 1 had an X-linked dominant disorder, and 1 had both an AD and an AR disorder. The 32 patients with pathogenic or likely pathogenic variants exhibited various neurobehavioral and neuroimaging abnormalities, including intellectual disability/developmental delay (n = 28), cerebral palsy-like encephalopathy (n = 11), autism spectrum disorder (n = 5), delayed/hypomyelination (n = 7), and cerebellar abnormalities (n = 9). The results of WES affected m...Continue Reading

  • References22
  • Citations73


Mentioned in this Paper

Cerebellar Diseases
Specialty Type - Family Planning
Pathogenic Organism
Mental Retardation, X-Linked
Transcription Initiation
Incidence Studies
Alzheimer's Disease
Pediatric Discipline
Whole Exome Sequencing
Autosomal Dominant Inheritance

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Alzheimer's Disease: Neuroimaging

Alzheimer's disease (AD) is a chronic neurodegenerative disease. Here is the latest research on neuroimaging modalities, including magnetic resonance imaging and positron emission tomography, in AD.