Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community

Autor: Samira Jambi, Anas Dannoun, Essam H. Jiffri, Nasser A. Elhawary, Hassan Kordi, Asim Khogeer, Ahmad H. Mufti, Osama H. Jiffri, Mohammed T. Tayeb, Abdelrahman N. Elhawary
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Male
0301 basic medicine
Delayed Diagnosis
Dystrophin gene
Duchenne muscular dystrophy
lcsh:Medicine
Dystrophin
Exon
0302 clinical medicine
Gene Duplication
Drug Discovery
Gene duplication
Child
Gene Rearrangement
Genetics
biology
Exons
MLPA
Frame shift
Child
Preschool
Molecular Medicine
Female
Primary Research
musculoskeletal diseases
congenital
hereditary
and neonatal diseases and abnormalities
Adolescent
lcsh:QH426-470
Saudi Arabia
Saudi community
Frameshift mutation
03 medical and health sciences
medicine
Humans
RNA
Messenger
Multiplex ligation-dependent probe amplification
Molecular Biology
Large rearrangements
lcsh:R
Infant
Gene rearrangement
medicine.disease
Exon skipping
Muscular Dystrophy
Duchenne
lcsh:Genetics
030104 developmental biology
Mutation
biology.protein
Gene Deletion
030217 neurology & neurosurgery
Zdroj: Human Genomics, Vol 12, Iss 1, Pp 1-11 (2018)
Human Genomics
ISSN: 1479-7364
DOI: 10.1186/s40246-018-0152-8
Popis: Background In individuals with Duchenne muscular dystrophy (DMD), exon skipping treatment to restore a wild-type phenotype or correct the frame shift of the mRNA transcript of the dystrophin (DMD) gene are mutation-specific. To explore the molecular characterization of DMD rearrangements and predict the reading frame, we simultaneously screened all 79 DMD gene exons of 45 unrelated male DMD patients using a multiplex ligation-dependent probe amplification (MLPA) assay for deletion/duplication patterns. Multiplex PCR was used to confirm single deletions detected by the MLPA. Results There was an obvious diagnostic delay, with an extremely statistically significant difference between the age at initial symptoms and the age of clinical evaluation of DMD cases (t value, 10.3; 95% confidence interval 5.95–8.80, P
Databáze: OpenAIRE
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