Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are related disorders that are characterized by progressive degeneration and weakening of the muscles, particularly skeletal and heart muscles. Both are caused by mutation of the DMD gene.
When considering hereditary cancer testing, it’s important to know what mutations are covered and therefore how comprehensive the test is. When available hereditary cancer screening tests are reviewed, we find an intersection of 28 well-studied cancer predisposition genes that are covered by most if not all of the tests. Of these genes, 24 have previously described, cancer-associated del/dup mutations that are two exons or less in size. This is significant for two reasons.
Genetic ataxias are caused by mutations that result in the production of abnormal proteins. These abnormal proteins impact the function of nerve cells, particularly in the cerebellum and spinal cord, generally resulting in degeneration and progressive worsening of symptoms. Some cases of genetic ataxias are sporadic, arising through independent acquisition of a mutation, but most are inherited.
Charcot-Marie-Tooth disease is a group of inherited disorders that affect the peripheral nervous system. There are many different forms of the disease. Some are caused by small nucleotide changes, while others are caused by gene duplication or deletion events which can be detected by whole genome sequencing.
- ACMG secondary findings updated list for reporting of secondary findings, for medically actionable genes in clinical exome and genome sequencing
- Medically actionable genes that go beyond the ACMG set of 59
- Unavoidable vs optional incidental findings: What you need to know
- FXN: What you need to know for Friedreich’s ataxia patients
- Is WGS-based testing relevant for patients with suspected mitochondrial disease?
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