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Three novel splicing mutations at 5' terminal of DMD gene corresponding to different phenotypes / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 666-671, 2019.
Article in Chinese | WPRIM | ID: wpr-771943
ABSTRACT
OBJECTIVE@#To study the correlation of splicing mutations at the 5' end of the DMD gene with their phenotypes.@*METHODS@#DMD gene mutations were analyzed using Multiplex Ligation Probe Amplification (MLPA) and Sanger sequencing. Co-segregation analysis was performed for the pedigrees of the probands. Influence of mutations on protein function was predicted by bioinformatic analysis.@*RESULTS@#Three novel splicing mutations were identified in three patients with different phenotypes. Patient 1 carried a c.31+3insT mutation and presented primarily with dilated cardiomyopathy (XLDC). There was no clinical signs of skeletal myopathy. Bioinformatic analysis predicted that the mutation may inactivate the splicing donor of intron 1 and lead to premature termination of protein translation. Patient 2 carried a c.264_264+4delTGTAA mutation, which led to loss of splicing donor site for intron 4, and manifested Becker muscular dystrophy (BMD). The mutation was predicted to result in skipping of exon 4. The defective protein may still retain most of its function. Patient 3 had Duchenne muscular dystrophy (DMD) and carried a c.832-3C>T mutation which was predicted to decrease the activity of splicing acceptor of intron 8, resulting in usage of alternative acceptor site or retain of intron 8. All related transcripts may cause premature termination of protein translation and complete loss of protein function. The three mutations were all inherited from the mothers of the patients.@*CONCLUSION@#Three novel splicing mutations were discovered at the 5' end of DMD gene in three patients with different disease phenotypes. Our study may facilitate understanding of the influence of splicing mutations at the 5' end of the DMD gene on dystrophin function and the correlation between genotypes and phenotypes.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Phenotype / RNA Splicing / Dystrophin / Muscular Dystrophy, Duchenne / Genetics / Mutation Limits: Humans Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2019 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Phenotype / RNA Splicing / Dystrophin / Muscular Dystrophy, Duchenne / Genetics / Mutation Limits: Humans Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2019 Type: Article