
Atrial Fibrillation, Familial, 12: A Genetic Glimpse into the Heart's Rhythm
Frameshift deletion of MYL4 disturbs the atrial muscle fibers behind AFF12, an early-onset inherited arrhythmia; testing supports diagnosis, treatment and counseling.

MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
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).
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.

Frameshift deletion of MYL4 disturbs the atrial muscle fibers behind AFF12, an early-onset inherited arrhythmia; testing supports diagnosis, treatment and counseling.

Relatives who develop irregular heartbeats unusually young may share a frameshift deletion in MYL4, which testing can pinpoint to guide treatment and screening.

Often passed on in an autosomal dominant pattern, ASD3 leaves an opening in the atrial septum; genetic results support earlier diagnosis and family risk assessment.

Immune attacks on the intestines and endocrine glands leave people prone to persistent infections. Genetic markers can confirm AEE-SCIS when symptoms overlap.

Progressive hearing impairment affecting only the auditory system defines ADNSHL 64. With over 100 hearing genes known, testing narrows which one is involved.

Isolated hearing impairment with no syndromic features is what ARNSHL29 produces, and mutations in PKHD1L1 disrupt the hair-cell structures responsible for it.

Progressive incoordination of gait sits alongside hand, speech and eye movement problems in SCAR11. Testing confirms it and clarifies risk for relatives.

Matching a specific mutation to the symptoms it produces helps predict how ARSCA12 progresses; carrier testing and counseling build on that same result.