ADNSHL 66: CEACAM16 Variant and Cochlear Function
Sound reaching the cochlea depends on the tectorial membrane, disrupted by a CEACAM16 variant in ADNSHL 66. Counselling covers reproductive options such as PGD.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, National Society of Genetic Counselors (NSGC)
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.
Articles by Brandon
Advancements in Autosomal Dominant Nonsyndromic Hearing Loss 68: Genetic Testing as a Beacon of Hope
Worsening hearing with no other syndromic features follows a CEACAM16 missense variant in ADNSHL 68, and the same finding is guiding work on targeted therapies.
ADNSHL 69 and the CEACAM16 Tectorial Membrane Link
CEACAM16 encodes a protein that shapes the cochlea's tectorial membrane, and a missense variant there causes ADNSHL 69. Screening can flag relatives at risk.
Advancements in Autosomal Dominant Nonsyndromic Hearing Loss 70: The Role of Genetic Testing
Research has identified a mutation in MCM2 as a cause of DFNA70. Testing for that marker supports earlier diagnosis, device choices and family counselling.
Decoding Autosomal Dominant Robinow Syndrome 3: The Role of Genetic Testing
DVL1 mutations interfere with Wnt signaling, the pathway that guides skeletal formation, producing the facial and limb features seen in ADRS3.
Addressing Autosomal Recessive Cerebellar Ataxia - Epilepsy - Intellectual Disability Syndrome Due to TUD Deficiency: The Role of Genetic Testing
A deficiency in TUD disrupts neurological function, bringing early-onset seizures, problems with coordination and balance, and intellectual disability.
Addressing Autosomal Recessive Complex Spastic Paraplegia Type 9B: The Role of Genetic Testing
SPG56 belongs to the hereditary spastic paraplegias, its lower-limb spasticity and muscle weakness traced to mutations in the CYP2U1 gene inherited from both parents.
Addressing Autosomal Recessive Early-Onset Parkinson Disease 23: The Promise of Genetic Testing
Symptoms appear at a much younger age than in typical Parkinson's, and a study of a Pakistani family linked AREO-PD23 to the c.1982A>C mutation in FCHSD1.