Journal article
DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians
Journal of clinical neuromuscular disease, Vol.24(4), pp.171-187
06/01/2023
DOI: 10.1097/CND.0000000000000436
PMID: 37219861
Abstract
The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic testing in approximately 95% of cases. Although specific mutations can be associated with skeletal muscle phenotype, pulmonary and cardiac comorbidities (leading causes of death in Duchenne) have not been associated with Duchenne muscular dystrophy mutation type or location and vary within families. Therefore, identifying predictors for phenotype severity beyond frameshift prediction is important clinically. We performed a systematic review assessing research related to genotype-phenotype correlations in DBMD. While there are severity differences across the spectrum and within mild and severe forms of DBMD, few protective or exacerbating mutations within the dystrophin gene were reported. Except for intellectual disability, clinical test results reporting genotypic information are insufficient for clinical prediction of severity and comorbidities and the predictive validity is too low to be useful when advising families. Including expanded information coupled with proposed severity predictions in clinical genetic reports for DBMD is critical for improving anticipatory guidance.
Details
- Title: Subtitle
- DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians
- Creators
- Jennifer G Andrews - University of ArizonaMaureen Kelly Galindo - University of ArizonaShiny Thomas - New York State Department of HealthKatherine D Mathews - University of IowaNedra Whitehead - RTI International
- Resource Type
- Journal article
- Publication Details
- Journal of clinical neuromuscular disease, Vol.24(4), pp.171-187
- DOI
- 10.1097/CND.0000000000000436
- PMID
- 37219861
- ISSN
- 1537-1611
- eISSN
- 1537-1611
- Language
- English
- Date published
- 06/01/2023
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984421698002771
Metrics
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