Dyskeratosis Congenita, Autosomal Recessive 2: NOP10
Mutations in the NOP10 gene disrupt telomere maintenance, producing the abnormal skin pigmentation, nail dystrophy and leukoplakia seen in this rare subtype.
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
Diving into Dyskeratosis Congenita, Autosomal Recessive 3: Genetic Testing as a Beacon of Hope
A homozygous missense mutation in OFD1 has been tied to this subtype, whose triad of skin pigmentation, nail dystrophy and oral leukoplakia varies between patients.
Exploring EDICT Syndrome: A Genetic Approach to Understanding Rare Disorders
Endothelial dystrophy, iris hypoplasia, congenital cataract and stromal thinning form the acronym, and a single-base change in the miR-184 seed region causes them.
Embracing Early Detection: Genetic Testing for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Because this dominant form carries a risk of cardiac complications, LMNA analysis can identify affected people before weakness and contractures show up.
EAIS4: Genetic Susceptibility to Acute Encephalopathy
Differences in immune response and inflammation can raise the chance that an infection leads to acute brain dysfunction, the susceptibility described as EAIS4.
Epiphyseal Dysplasia, Multiple, 6: Genetic Testing's Role in Diagnosis and Management
Compound heterozygous SLC26A2 variants disturb chondrocyte proliferation in this autosomal recessive skeletal dysplasia, bringing joint pain and stiffness.
Familial Retinal Arterial Macroaneurysm: Unraveling the Genetic Threads of a Rare Condition
Dilations in the retinal arteries, sometimes with supravalvular pulmonic stenosis, define FRAM and can lead to retinal hemorrhage or vision loss.
Fanconi Anemia Group G: FANCG Mutations and Treatment
Sitting on chromosome 9, FANCG encodes a protein that repairs DNA interstrand crosslinks; sequencing it confirms the subtype and informs transplant planning.