Cardiofaciocutaneous Syndrome 4: Signs and Gene Tests
High forehead, bitemporal narrowing, eczema or hyperkeratosis and cardiac abnormalities point to CFC4; BRAF, MAP2K1 and MAP2K2 testing shows which mutation is present.
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
Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis: Understanding the Role of Genetic Testing
DSP and JUP mutations link an enlarged, weakened heart to woolly hair, thickened palms and soles and missing teeth, in a pattern inherited from both parents.
Cataract 15 Multiple Types: Hereditary Lens Clouding
Proteins that keep the lens transparent are disrupted in Cataract 15, which can appear early in life and progress quickly. Testing supports family risk assessment.
Cataract 19 Multiple Types: What DNA Testing Adds
Presentation varies widely in Cataract 19, complicating diagnosis. Mutation analysis, predictive testing and the practical limits of genetic counseling are discussed.
Catecholaminergic Polymorphic Ventricular Tachycardia 5: Genetic Testing for a Hidden Heart Hazard
Families with unexplained sudden cardiac deaths may carry CPVT5, an inherited rhythm disorder of the cardiac calcium channels that testing can find before symptoms.
Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 4: Navigating Genetic Testing
Ataxia, hypotonia, intellectual disability and cerebellar atrophy mark CAMRQ syndrome type 4, described in an Iranian family with a novel homozygous variant.
Charcot-Marie-Tooth Type 2Q Symptoms and Genetics
Axonal degeneration in CMT2Q brings muscle atrophy, weakness and sensory deficits that start in the lower limbs; MT-ATP6 supports mitochondrial energy production.
CIDEC-Related Familial Partial Lipodystrophy: Navigating Genetic Testing and Its Implications
Unlock the power of genetic testing for CIDEC-related familial partial lipodystrophy. Discover diagnosis, personalized treatment, and family risk insights today.