Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach

Abstract Background Relative haplotype dosage (RHDO) approach has been applied in noninvasive prenatal diagnosis (NIPD) of Duchenne muscular dystrophy (DMD). However, the RHDO procedure is relatively complicated and the parental haplotypes need to be constructed. Furthermore, it is not suitable for...

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Autores principales:	Ganye Zhao, Xiaofeng Wang, Lina Liu, Peng Dai, Xiangdong Kong
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Noninvasive prenatal diagnosis Duchenne muscular dystrophy Relative mutation dosage Cell free DNA cfBEST Internal medicine RC31-1245 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/08e9017b46f54308848b6bd95b145cd0
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spelling	oai:doaj.org-article:08e9017b46f54308848b6bd95b145cd02021-11-28T12:06:00ZNoninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach10.1186/s12920-021-01128-11755-8794https://doaj.org/article/08e9017b46f54308848b6bd95b145cd02021-11-01T00:00:00Zhttps://doi.org/10.1186/s12920-021-01128-1https://doaj.org/toc/1755-8794Abstract Background Relative haplotype dosage (RHDO) approach has been applied in noninvasive prenatal diagnosis (NIPD) of Duchenne muscular dystrophy (DMD). However, the RHDO procedure is relatively complicated and the parental haplotypes need to be constructed. Furthermore, it is not suitable for the diagnosis of de novo mutations or mosaicism in germ cells. Here, we investigated NIPD of DMD using a relative mutation dosage (RMD)-based approach—cell-free DNA Barcode-Enabled Single-Molecule Test (cfBEST), which has not previously been applied in the diagnosis of exon deletion. Methods Five DMD families caused by DMD gene point mutations or exon deletion were recruited for this study. After the breakpoints of exon deletion were precisely mapped with multiple PCR, the genotypes of the fetuses from the five DMD families were inferred using cfBEST, and were further validated by invasive prenatal diagnosis. Results The cfBEST results of the five families indicated that one fetus was female and did not carry the familial molecular alteration, three fetuses were carriers and one was male without the familial mutation. The invasive prenatal diagnosis results were consistent with those of the cfBEST procedure. Conclusion This is the first report of NIPD of DMD using the RMD-based approach. We extended the application of cfBEST from point mutation to exon deletion mutation. The results showed that cfBEST would be suitable for NIPD of DMD caused by different kinds of mutation types.Ganye ZhaoXiaofeng WangLina LiuPeng DaiXiangdong KongBMCarticleNoninvasive prenatal diagnosisDuchenne muscular dystrophyRelative mutation dosageCell free DNAcfBESTInternal medicineRC31-1245GeneticsQH426-470ENBMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Noninvasive prenatal diagnosis Duchenne muscular dystrophy Relative mutation dosage Cell free DNA cfBEST Internal medicine RC31-1245 Genetics QH426-470
spellingShingle	Noninvasive prenatal diagnosis Duchenne muscular dystrophy Relative mutation dosage Cell free DNA cfBEST Internal medicine RC31-1245 Genetics QH426-470 Ganye Zhao Xiaofeng Wang Lina Liu Peng Dai Xiangdong Kong Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach
description	Abstract Background Relative haplotype dosage (RHDO) approach has been applied in noninvasive prenatal diagnosis (NIPD) of Duchenne muscular dystrophy (DMD). However, the RHDO procedure is relatively complicated and the parental haplotypes need to be constructed. Furthermore, it is not suitable for the diagnosis of de novo mutations or mosaicism in germ cells. Here, we investigated NIPD of DMD using a relative mutation dosage (RMD)-based approach—cell-free DNA Barcode-Enabled Single-Molecule Test (cfBEST), which has not previously been applied in the diagnosis of exon deletion. Methods Five DMD families caused by DMD gene point mutations or exon deletion were recruited for this study. After the breakpoints of exon deletion were precisely mapped with multiple PCR, the genotypes of the fetuses from the five DMD families were inferred using cfBEST, and were further validated by invasive prenatal diagnosis. Results The cfBEST results of the five families indicated that one fetus was female and did not carry the familial molecular alteration, three fetuses were carriers and one was male without the familial mutation. The invasive prenatal diagnosis results were consistent with those of the cfBEST procedure. Conclusion This is the first report of NIPD of DMD using the RMD-based approach. We extended the application of cfBEST from point mutation to exon deletion mutation. The results showed that cfBEST would be suitable for NIPD of DMD caused by different kinds of mutation types.
format	article
author	Ganye Zhao Xiaofeng Wang Lina Liu Peng Dai Xiangdong Kong
author_facet	Ganye Zhao Xiaofeng Wang Lina Liu Peng Dai Xiangdong Kong
author_sort	Ganye Zhao
title	Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach
title_short	Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach
title_full	Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach
title_fullStr	Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach
title_full_unstemmed	Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach
title_sort	noninvasive prenatal diagnosis of duchenne muscular dystrophy in five chinese families based on relative mutation dosage approach
publisher	BMC
publishDate	2021
url	https://doaj.org/article/08e9017b46f54308848b6bd95b145cd0
work_keys_str_mv	AT ganyezhao noninvasiveprenataldiagnosisofduchennemusculardystrophyinfivechinesefamiliesbasedonrelativemutationdosageapproach AT xiaofengwang noninvasiveprenataldiagnosisofduchennemusculardystrophyinfivechinesefamiliesbasedonrelativemutationdosageapproach AT linaliu noninvasiveprenataldiagnosisofduchennemusculardystrophyinfivechinesefamiliesbasedonrelativemutationdosageapproach AT pengdai noninvasiveprenataldiagnosisofduchennemusculardystrophyinfivechinesefamiliesbasedonrelativemutationdosageapproach AT xiangdongkong noninvasiveprenataldiagnosisofduchennemusculardystrophyinfivechinesefamiliesbasedonrelativemutationdosageapproach
_version_	1718408180337213440

Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach

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