Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm

Introduction: Dystrophinopathies are X-linked recessive neuromuscular diseases caused by mutations in the dystrophin gene. In this study we aimed to detect mutations within the dystrophin gene in DMD patients, to determine the carrier status of women, and to perform a prenatal diagnosis. Methods: We...

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Autores principales:	Luce, L.N., Ottaviani, D., Ferrer, M., Szijan, I., Cotignola, J., Giliberto, F.
Formato:	JOUR
Materias:	Carrier detection DMD Duchenne Dystrophin gene Molecular diagnosis dystrophin adult algorithm article child clinical article controlled study Duchenne muscular dystrophy dystrophinopathy exon familial disease female fetus gene deletion gene mutation genetic recombination germ line haplotype heterozygote human molecular diagnosis mosaicism multiplex ligation dependent probe amplification multiplex polymerase chain reaction pedigree prenatal diagnosis priority journal segregation analysis short tandem repeat Algorithms Argentina Dystrophin Exons Female Genetic Diseases, X-Linked Haplotypes Humans Male Molecular Diagnostic Techniques Muscular Dystrophies Muscular Dystrophy, Duchenne Mutation Pedigree Tandem Repeat Sequences
Acceso en línea:	http://hdl.handle.net/20.500.12110/paper_0148639X_v49_n2_p249_Luce
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

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spelling	todo:paper_0148639X_v49_n2_p249_Luce2023-10-03T15:01:03Z Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm Luce, L.N. Ottaviani, D. Ferrer, M. Szijan, I. Cotignola, J. Giliberto, F. Carrier detection DMD Duchenne Dystrophin gene Molecular diagnosis dystrophin adult algorithm article child clinical article controlled study Duchenne muscular dystrophy dystrophinopathy exon familial disease female fetus gene deletion gene mutation genetic recombination germ line haplotype heterozygote human molecular diagnosis mosaicism multiplex ligation dependent probe amplification multiplex polymerase chain reaction pedigree prenatal diagnosis priority journal segregation analysis short tandem repeat Algorithms Argentina Dystrophin Exons Female Genetic Diseases, X-Linked Haplotypes Humans Male Molecular Diagnostic Techniques Muscular Dystrophies Muscular Dystrophy, Duchenne Mutation Pedigree Tandem Repeat Sequences Introduction: Dystrophinopathies are X-linked recessive neuromuscular diseases caused by mutations in the dystrophin gene. In this study we aimed to detect mutations within the dystrophin gene in DMD patients, to determine the carrier status of women, and to perform a prenatal diagnosis. Methods: We analyzed 17 individuals from 2 unrelated families with a history of DMD. We used multiplex PCR, multiplex ligation-dependent probe amplification (MLPA), and short tandem-repeat (STR) segregation analysis to accurately detect and characterize the mutations and to identify the at-risk haplotype. Results: The selected methodology allowed for characterization of 2 single-exon out-of-frame deletions in affected patients. Nine of 13 women and a fetus were excluded from being carriers. Three recombination events were found and suggested that germline mosaicism had occurred in both families. Conclusions: This methodology proved to be efficient for characterizing the disease-causing mutation in affected individuals and for assessing the carrier status in healthy relatives. These findings helped inform precise genetic counseling and contributed to characterization of the disease in the Argentine population. © 2013 Wiley Periodicals, Inc. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_0148639X_v49_n2_p249_Luce
institution	Universidad de Buenos Aires
institution_str	I-28
repository_str	R-134
collection	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic	Carrier detection DMD Duchenne Dystrophin gene Molecular diagnosis dystrophin adult algorithm article child clinical article controlled study Duchenne muscular dystrophy dystrophinopathy exon familial disease female fetus gene deletion gene mutation genetic recombination germ line haplotype heterozygote human molecular diagnosis mosaicism multiplex ligation dependent probe amplification multiplex polymerase chain reaction pedigree prenatal diagnosis priority journal segregation analysis short tandem repeat Algorithms Argentina Dystrophin Exons Female Genetic Diseases, X-Linked Haplotypes Humans Male Molecular Diagnostic Techniques Muscular Dystrophies Muscular Dystrophy, Duchenne Mutation Pedigree Tandem Repeat Sequences
spellingShingle	Carrier detection DMD Duchenne Dystrophin gene Molecular diagnosis dystrophin adult algorithm article child clinical article controlled study Duchenne muscular dystrophy dystrophinopathy exon familial disease female fetus gene deletion gene mutation genetic recombination germ line haplotype heterozygote human molecular diagnosis mosaicism multiplex ligation dependent probe amplification multiplex polymerase chain reaction pedigree prenatal diagnosis priority journal segregation analysis short tandem repeat Algorithms Argentina Dystrophin Exons Female Genetic Diseases, X-Linked Haplotypes Humans Male Molecular Diagnostic Techniques Muscular Dystrophies Muscular Dystrophy, Duchenne Mutation Pedigree Tandem Repeat Sequences Luce, L.N. Ottaviani, D. Ferrer, M. Szijan, I. Cotignola, J. Giliberto, F. Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm
topic_facet	Carrier detection DMD Duchenne Dystrophin gene Molecular diagnosis dystrophin adult algorithm article child clinical article controlled study Duchenne muscular dystrophy dystrophinopathy exon familial disease female fetus gene deletion gene mutation genetic recombination germ line haplotype heterozygote human molecular diagnosis mosaicism multiplex ligation dependent probe amplification multiplex polymerase chain reaction pedigree prenatal diagnosis priority journal segregation analysis short tandem repeat Algorithms Argentina Dystrophin Exons Female Genetic Diseases, X-Linked Haplotypes Humans Male Molecular Diagnostic Techniques Muscular Dystrophies Muscular Dystrophy, Duchenne Mutation Pedigree Tandem Repeat Sequences
description	Introduction: Dystrophinopathies are X-linked recessive neuromuscular diseases caused by mutations in the dystrophin gene. In this study we aimed to detect mutations within the dystrophin gene in DMD patients, to determine the carrier status of women, and to perform a prenatal diagnosis. Methods: We analyzed 17 individuals from 2 unrelated families with a history of DMD. We used multiplex PCR, multiplex ligation-dependent probe amplification (MLPA), and short tandem-repeat (STR) segregation analysis to accurately detect and characterize the mutations and to identify the at-risk haplotype. Results: The selected methodology allowed for characterization of 2 single-exon out-of-frame deletions in affected patients. Nine of 13 women and a fetus were excluded from being carriers. Three recombination events were found and suggested that germline mosaicism had occurred in both families. Conclusions: This methodology proved to be efficient for characterizing the disease-causing mutation in affected individuals and for assessing the carrier status in healthy relatives. These findings helped inform precise genetic counseling and contributed to characterization of the disease in the Argentine population. © 2013 Wiley Periodicals, Inc.
format	JOUR
author	Luce, L.N. Ottaviani, D. Ferrer, M. Szijan, I. Cotignola, J. Giliberto, F.
author_facet	Luce, L.N. Ottaviani, D. Ferrer, M. Szijan, I. Cotignola, J. Giliberto, F.
author_sort	Luce, L.N.
title	Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm
title_short	Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm
title_full	Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm
title_fullStr	Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm
title_full_unstemmed	Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm
title_sort	molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm
url	http://hdl.handle.net/20.500.12110/paper_0148639X_v49_n2_p249_Luce
work_keys_str_mv	AT luceln moleculardiagnosisofdystrophinopathiesusingamultitechniqueanalysisalgorithm AT ottavianid moleculardiagnosisofdystrophinopathiesusingamultitechniqueanalysisalgorithm AT ferrerm moleculardiagnosisofdystrophinopathiesusingamultitechniqueanalysisalgorithm AT szijani moleculardiagnosisofdystrophinopathiesusingamultitechniqueanalysisalgorithm AT cotignolaj moleculardiagnosisofdystrophinopathiesusingamultitechniqueanalysisalgorithm AT gilibertof moleculardiagnosisofdystrophinopathiesusingamultitechniqueanalysisalgorithm
_version_	1807322280011759616

Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm

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