Identification of two rare mutations c.1318G>A and c.6438+2T>G in a Chinese DMD family as genetic markers

Yingchuan Zhu; Lijun Yang; Tengjiao Ma; Yilu Lu; Dachang Tao; Yunqiang Liu; Yongxin Ma

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자료유형: 학술저널

저자정보: Yingchuan Zhu (West China Hospital Sichuan University) Lijun Yang (West China Hospital Sichuan University) Tengjiao Ma (West China Hospital Sichuan University) Yilu Lu (West China Hospital Sichuan University) Dachang Tao (West China Hospital Sichuan University) Yunqiang Liu (West China Hospital Sichuan University) Yongxin Ma (West China Hospital Sichuan University)

저널정보: 한국유전학회 Genes & Genomics Genes & Genomics Vol.42 No.9

발행연도: 2020.1

수록면: 1,067 - 1,074 (8page)

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Background Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder with no efective treatment, which underscores the importance of avoiding the birth of children with DMD by identifying pathogenic mutations and obtaining an accurate prenatal diagnosis. Objective The objective of this study was to analyze the genetic defect of a Chinese family where all male patients have died of DMD. Methods Multiplex ligation dependent probe analysis (MLPA) and next-generation sequencing (NGS) were employed to detect DMD mutations. The candidate mutations were then validated by Sanger sequencing. In vitro splicing assay was further conducted to examine the potential efect of the novel DMD splice site mutation on splicing. Results We found that two rare DMD mutations c.1318G>A and c.6438+2T>G passed from generation to generation among female carriers and they may be used as genetic markers in the Chinese DMD family. In vitro splicing assay further revealed that the novel classical splice site mutation c.6438+2T>G gave rise to a new donor splice site, which resulted in a frame shift of the transcripts and a premature termination at position 2159 in exon 45 (p.Y2144Nfs*16). Conclusion We found that two co-inherited mutations passed from generation to generation in female carriers and they may be used as genetic markers in the Chinese DMD family. Our fndings not only expanded the DMD mutation spectrum, but also provided an important basis for identifying of female carriers and avoiding the birth of afected male children in this DMD family.

#Duchenne muscular dystrophy (DMD) · DMD · Next-generation sequencing (NGS) · Splice site mutation · Haplotype analysis

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