Lymphedema-Posterior Choanal Atresia Syndrome: Unlocking the Genetic Code
Bilateral choanal atresia with early infantile-onset lymphedema points to LPCAS. A homozygous loss-of-function mutation in PTPN14 is the known 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
Mapping the Mysteries: Megalencephalic Leukoencephalopathy with Subcortical Cysts 2A and Genetic Testing
An intragenic HEPACAM duplication disturbs glial cell function, producing brain enlargement, white matter degeneration and subcortical cysts in early childhood.
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2B: A Genetic Insight
HEPACAM mutations underlie MLC2B, a remitting white matter disorder with an enlarged head, subcortical cysts and, in some people, intellectual disability.
Molecular Mysteries: Unraveling Meier-Gorlin Syndrome 2 Through Genetic Testing
Primordial dwarfism, distinctive facial features and skeletal changes define MGS2, an autosomal recessive condition tied to ORC1, ORC4, ORC6, CDT1 and CDC6.
Mapping the Mysteries: Genetic Testing in Meier-Gorlin Syndrome 3
Microtia, primordial dwarfism and skeletal anomalies appear in MGS3, and testing pinpoints which of the 13 DNA replication genes carries the mutation.
Mapping the Mysteries: Genetic Testing and Meier-Gorlin Syndrome 4
Absent kneecaps, small ears and dwarfism are hallmarks of MGS4, one form of primordial dwarfism that gene testing can separate from similar conditions.
Mapping the Mysteries of Meier-Gorlin Syndrome 5: The Role of Genetic Testing
Short stature, small ears and skeletal abnormalities point to MGS5, caused by faults in DNA replication genes that genetic testing can identify and confirm.
Microphthalmia, Isolated, with Coloboma 6: Unraveling the Genetic Threads
Underdeveloped eyes and coloboma of the iris, retina, choroid or optic disc define MICC6, usually inherited in an autosomal dominant pattern that testing helps trace.