Recurrent Hand Flapping, Autism and the TRAPPC9 Gene
Hand flapping often appears alongside autism spectrum disorder and intellectual disability. In two Turkish siblings, a homozygous TRAPPC9 mutation was the cause.
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
Decoding the Mystery: Understanding and Diagnosing Recurrent Spontaneous Abortion
Defined as three or more consecutive losses before 20 weeks, RSA has genetic, structural, endocrine, immune and environmental causes. Chromosomal analysis can help.
Skeletal Muscle Weakness: Genetic Causes and Testing
Loss of LONP1, prelamin A build-up, dysferlin deficiency in LGMD2B and Prmt7 loss each cut muscle mass or strength, which biopsy and DNA tests assess.
Sardinian HPFH: Fetal Hemoglobin and Genetic Testing
Continued production of fetal hemoglobin after infancy can cause mild anemia. Blood counts, hemoglobin electrophoresis and genetic testing confirm Sardinian HPFH.
Decoding SDHB-Related Disorders: Understanding, Diagnosing, and Using Genetic Testing
Faults in the SDHB gene are associated with paragangliomas, pheochromocytomas and renal cell carcinoma; inheritance follows an autosomal dominant pattern.
Sensorineural Deafness and Migraine: Genetic Factors
Hearing loss from inner ear or auditory nerve damage has been tied to GATA3 and WFS1 mutations, alongside severe headaches with nausea and light sensitivity.
Decoding the Mystery: Understanding Sensorineural Deafness with Hypertrophic Cardiomyopathy
The m.3243A>G variant, the MT-TL1 gene and a mutation in unconventional myosin VI (MYO6) have each been reported with thickened heart muscle and progressive deafness.
Decoding SEPN1-Related Disorders: Understanding, Diagnosing, and Harnessing the Power of Genetic Testing
Mutations in the SEPN1 gene disrupt selenoprotein N, bringing muscle weakness, scoliosis and breathing problems that targeted, exome or genome sequencing can trace.