Identification of two novel insertion abnormal transcripts in two Chinese families affected with Dystrophinopathy.

ABSTRACT:

Background

Duchenne muscular dystrophy (DMD) is an X-linked recessive inheritance muscle dystrophy disease, associated with pathogenic variants in the DMD gene. MLPA, DHPLC and DMD sequence studies fail to found the causative alteration in two cases. This study intends to evaluate the disease-causing mutations and explains the correlation genotype-phenotype.

Methods

The mRNA analysis and Long-range PCR with sequencing were used for molecular diagnosis.

Results

In case one, an insertion of 78 nucleotides between exons 40 and 41 (r.5739_5740insMN602429:r415_492) was identified in case one. The insertion sequences were highly homologous to the intron 40 (NG_012232.1:g.1001760_g.1001837). Long-range PCR with sequencing analysis showed that a novel deep intronic DMD mutati

SUBMITTER: Xu Y 

PROVIDER: S-EPMC7171295 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature