Clinical and genetic characteristics of female dystrophinopathy carriers

Molecular Medicine Reports
Jingzi ZhongDan Lan

Abstract

The present study aimed to determine the genetic status of manifesting carriers (MCs) of Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) and asymptomatic carriers with a family history of DMD/BMD, and identify potential simple and reliable methods for screening dystrophinopathy carriers. Clinical data from probable carriers and MCs were collected and analyzed. MCs underwent multiplex ligation‑dependent probe amplification (MLPA) for dystrophin gene exons combined with muscle disease panel test based on a next‑generation sequencing (NGS) platform. In addition, the status of probable carriers was determined by MLPA or Sanger sequencing, according to the mutations of probands. A total of 154 female were enrolled, among which 78 cases were found to be carriers, including 4 MCs and 74 asymptomatic female carriers. The 4 MCs exhibited duplication mutations. Among the 74 asymptomatic carriers, 41.89% harbored deletion mutations, including 2 cases with suspected germline mosaicism and no mutation in the dystrophin gene, while 44.59% harbored point mutations in exons and only 10 cases (13.51%) carried duplication mutations. The area under the receiver operating characteristic (ROC) curve of creatine kinase (CK) was 0.8...Continue Reading

References

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Apr 28, 2017·Orphanet Journal of Rare Diseases·S RyderJ Kleijnen

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Citations

Oct 20, 2020·Frontiers in Neurology·Jiapeng ZhangDan Lan
Dec 18, 2020·Curēus·Nicolas C Longobardi, Yen Longobardi

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Methods Mentioned

BETA
biopsies
PCR
biopsy

Software Mentioned

Picard
Solexa
assistant
SPSS
Exome
SOAPaligner
BWA
GeneMapper
GATK

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