杜兴氏肌营养不良症患者母亲的肌营养不良蛋白基因点突变检测显示体细胞和生殖细胞嵌合体现象。 - Suppr

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy.

作者信息

van Essen Anthonie J, Mulder Inge M, van der Vlies Pieter, van der Hout Annemarie H, Buys Charles H C M, Hofstra Robert M W, den Dunnen Johan T

出版信息

Am J Med Genet A. 2003 Apr 30;118A(3):296-8. doi: 10.1002/ajmg.a.10056.

DOI:10.1002/ajmg.a.10056

PMID:12673664

Abstract

摘要

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Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy.

Am J Med Genet A. 2003 Apr 30;118A(3):296-8. doi: 10.1002/ajmg.a.10056.

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引用本文的文献

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Orphanet J Rare Dis. 2012 Oct 23;7:82. doi: 10.1186/1750-1172-7-82.

Clinical and genetic characterization of manifesting carriers of DMD mutations.

Neuromuscul Disord. 2010 Aug;20(8):499-504. doi: 10.1016/j.nmd.2010.05.010. Epub 2010 Jul 13.

Microarray-based mutation detection in the dystrophin gene.

Hum Mutat. 2008 Sep;29(9):1091-9. doi: 10.1002/humu.20831.

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Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy.

作者信息

van Essen Anthonie J, Mulder Inge M, van der Vlies Pieter, van der Hout Annemarie H, Buys Charles H C M, Hofstra Robert M W, den Dunnen Johan T

出版信息

Am J Med Genet A. 2003 Apr 30;118A(3):296-8. doi: 10.1002/ajmg.a.10056.

DOI:10.1002/ajmg.a.10056

PMID:12673664

Abstract

摘要

相似文献

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy.

Am J Med Genet A. 2003 Apr 30;118A(3):296-8. doi: 10.1002/ajmg.a.10056.

[Germinal mosaicism for partial deletion of the Dystrophin gene in a family affected with Duchenne muscular dystrophy].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Oct 10;36(10):1015-1018. doi: 10.3760/cma.j.issn.1003-9406.2019.10.016.

Analysis of dinucleotide repeat loci of dystrophin gene for carrier detection, germline mosaicism and de novo mutations in Duchenne muscular dystrophy.

Clin Genet. 2000 Sep;58(3):234-6. doi: 10.1034/j.1399-0004.2000.580312.x.

Detection of germline mosaicism in two Duchenne muscular dystrophy families using polymorphic dinucleotide (CA)n repeat loci within the dystrophin gene.

Mol Diagn. 2004;8(2):115-21. doi: 10.1007/BF03260054.

Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms.

Am J Med Genet A. 2009 Jul;149A(7):1499-503. doi: 10.1002/ajmg.a.32891.

DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene.

Neuromuscul Disord. 2002 Nov;12(9):845-8. doi: 10.1016/s0960-8966(02)00069-x.

[Detection of mutations of the dystrophin gene in Duchenne muscular dystrophy boys].

Zhonghua Er Ke Za Zhi. 2009 Jan;47(1):68-9.

Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy.

Eur J Hum Genet. 2016 Oct;24(10):1511-4. doi: 10.1038/ejhg.2016.22. Epub 2016 Mar 9.

Gene symbol: DMD. Disease: Muscular dystrophy, Duchenne.

Hum Genet. 2008 Oct;124(3):321.

De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases.

Exp Mol Med. 2003 Apr 30;35(2):113-7. doi: 10.1038/emm.2003.16.

引用本文的文献

Deep characterization of females with heterozygous Duchenne muscular dystrophy mutations.

J Neurol. 2025 Mar 4;272(3):244. doi: 10.1007/s00415-025-12987-4.

A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?

J Genet Couns. 2025 Feb;34(1):e1932. doi: 10.1002/jgc4.1932. Epub 2024 Jun 19.

Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.

Neurogenetics. 2024 Jul;25(3):201-213. doi: 10.1007/s10048-024-00765-9. Epub 2024 Jun 8.

A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.

Ann Hum Genet. 2015 May;79(3):218-24. doi: 10.1111/ahg.12108. Epub 2015 Mar 16.

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.

Hum Mutat. 2015 Jan;36(1):48-56. doi: 10.1002/humu.22691.

Comparative Genomics of X-linked Muscular Dystrophies: The Golden Retriever Model.

Curr Genomics. 2013 Aug;14(5):330-42. doi: 10.2174/13892029113149990004.

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.

Orphanet J Rare Dis. 2012 Oct 23;7:82. doi: 10.1186/1750-1172-7-82.

Clinical and genetic characterization of manifesting carriers of DMD mutations.

Neuromuscul Disord. 2010 Aug;20(8):499-504. doi: 10.1016/j.nmd.2010.05.010. Epub 2010 Jul 13.

Microarray-based mutation detection in the dystrophin gene.

Hum Mutat. 2008 Sep;29(9):1091-9. doi: 10.1002/humu.20831.

The role of polymorphic short tandem (CA)n repeat loci segregation analysis in the detection of Duchenne muscular dystrophy carriers and prenatal diagnosis.

Mol Diagn. 2005;9(2):67-80. doi: 10.1007/BF03260074.

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy.

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Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy.

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