Finding Answers to Neurological Disorders with Clinical Exome Sequencing

blog image

At Ambry, “Finding Answers” is at the core of what we do. We know patients and clinicians depend on us to find answers that help them better understand diseases, and improve outcomes.

2017 has been a busy and productive year for Ambry. In particular, using Ambry’s clinical exome test, ExomeNext, we have been successful in identifying many new disease-causing genetic mutations. Working with leading scientists and clinicians, Ambry has been able to help identify the genetic causes of many mysterious disorders. We are excited to share with you the novel gene-diseases associations we have discovered and their associated publications in the table below.

We also want to give a special thank you to the patients, scientists and clinicians who have participated in these studies. Ambry could not have made these new advances without their courage and commitment.

As we look forward to 2018, we look forward to serving the patients and families that depend on us for answers.

Novel Disease Identified	Gene(s) Responsible	Resulting Biological Dysfunction	Clinical Impact	Publication
Developmental disability with hypotonia and gait ataxia	DOCK3	Dysfunction cytoskeleton organization.	New syndrome described	Clin Genet
Epileptic encephalopathy	SCN8A	Dysfunction in voltage-gated sodium channel	Identified new variants in an alternative isoform	Genet Med
Encephalopathies with infantile/childhood onset epilepsies	SCN2A	Dysfunction in voltage-gated sodium channel	Supports correlation between response to sodium channel treatment with patient age of disease onset	Brain
GRIN2B-associated encephalopathy	GRIN2B	Dysfunction in neuronal communication	Identified additional symptoms of the disease not previously attributed to mutation	J Med Genet
YY1-associated haploinsufficiency syndrome	YY1	Dysregulation of key transcriptional regulators	New syndrome described	AJHG
Mitochondriopathy with optic atrophy	FDXR	Dysfunction in ferredoxin NADP reductase activity	New syndrome described	Hum Mol Genet
DHX30-associated neurodevelopmental syndrome	DHX30	Dysregulation in translational control	New syndrome described	Am J Hum Genet
PPP3CA-associated early-onset epilepsy	PPP3CA	Dysfunction in neuronal communication	New syndrome described	Am J Hum Genet
Severe infantile onset leukoencephalopathy	WARS2	Loss of mitochondrial protein production	New syndrome described	Am J Med Genet A
SPTAN1-associated neuropathology	SPTAN1	Dysfunction cytoskeleton organization.	Comprehensive delineation of SPTAN1-assoicated phenotype	Brain
DNM1-associated encephalopathy	DNM1	Dysfunction in neuronal communication	Further delineation of phenotype	Neurology
SETD5-associated developmental delay syndrome	SETD5	Dysfunction in transcriptional control	Further delineation of phenotype	Clin Genet
FOXG1 syndrome	FOXG1	Loss of function leads to dysfunction in brain development	Further delineation of phenotype	Genet Med
BPTF-related neurodevelopmental syndrome	BPTF	Dysregulation in transcriptional control	New syndrome described	Am J Hum Genet
Neurodegenerative disorder	UBTF	Dysregulation in transcriptional control	New syndrome described	Am J Hum Genet
IQSEC2-associated intellectual disability syndrome	IQSEC2	Dysregulation in cytoskeletal and neuronal communication	Further delineation of phenotype	Am J Med Genet A
Intellectual disability with or without seizures and gait abnormalities	GRIA4	Dysfunction in neuronal communication	New syndrome described	Am J Hum Genet