TITLE

Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy

AUTHOR(S)
Taylor, Peter J.; Maroulis, Sarah; Mullan, Glenda L.; Pedersen, Robyn L.; Baumli, Aurora; Elakis, George; Piras, Sara; Walsh, Corrina; Próper-Gutiérez, Benito; De La Puente-Alonso, Fernancdo; Bell, Christopher G.; Mowat, David R.; Johnston, Heather M.; Buckley, Michael F.
PUB. DATE
June 2007
SOURCE
Journal of Medical Genetics;Jun2007, Vol. 44 Issue 6, p368
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Background: Recent methodological advances have improved the detection rate for dystrophin mutations, but there are no published studies that have measured the clinical utility of these protocols for carrier detection compared with conventional carrier testing protocols that use pedigree, serum creatine kinase levels and linkage analysis. Methods and subjects: The clinical utility of a combined mutation detection protocol was measured. It involved quantitative PCR procedures followed by DNA sequence analysis for the identification of dystrophin mutation carriers in 2101 women at risk of being carriers from 348 mutation-known Duchenne or Becker muscular dystrophy pedigrees. Results: The combined mutation detection protocol identified a mutation in 96% and 82% of index cases of Duchenne muscular dystrophy and Becker muscular dystrophy, respectively. An additional 692 (33%) potential carriers were correctly classified by the combined mutation detection protocol compared with pedigree, serum creatine kinase levels and linkage analysis. Significantly lower mutation carrier rates were identified in the mothers of isolated cases with deletion mutations than predicted from theoretical considerations, but these findings were not confirmed for duplication and DNA sequence mutations. Conclusions: There are significant clinical benefits to be gained from a combined mutation detection protocol for carrier detection. It is recommended that mutation-specific carrier frequencies for the different classes of dystrophin mutations should be taken into account in genetic counselling practice.
ACCESSION #
25610061

 

Related Articles

  • Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform. Byung Chan Lim; Lee, Seungbok; Jong-Yeon Shin; Jong-Il Kim; Hee Hwang; Ki Joong Kim; Yong Seung Hwang; Jeong-Sun Seo; Jong Hee Chae // Journal of Medical Genetics;Nov2011, Vol. 48 Issue 11, p731 

    Background Duchenne muscular dystrophy or Becker muscular dystrophy might be a suitable candidate disease for application of next-generation sequencing in the genetic diagnosis because the complex mutational spectrum and the large size of the dystrophin gene require two or more analytical...

  • Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients. Kekou, Kiriaki; Mavrou, Ariadni; Florentin, Lina; Youroukos, Sotiris; Zafiriou, Dimitrios I; Skouteli, Helen N; Metaxotou, Catherine // European Journal of Human Genetics;Mar1999, Vol. 7 Issue 2, p179 

    The distal part of the human dystrophin gene is characterised by particular features and seems to play an important functional role. Additionally in recent years several data have implicated minor mutations in this gene region in some patients with mental retardation (MR). In order to screen for...

  • Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier Detection. Anaya-Segura, Mónica Alejandra; García-Martínez, Froylan Arturo; Montes-Almanza, Luis Ángel; Díaz, Benjamín-Gómez; Ávila-Ramírez, Guillermina; Alvarez-Maya, Ikuri; Coral-Vázquez, Ramón Mauricio; Mondragón-Terán, Paul; Escobar-Cedillo, Rosa Elena; García-Calderón, Noemí; Vázquez-Cardenas, Norma Alejandra; García, Silvia; López-Hernández, Luz Berenice // Molecules;Jun2015, Vol. 20 Issue 6, p11154 

    Non-invasive biological indicators of the absence/presence or progress of the disease that could be used to support diagnosis and to evaluate the effectiveness of treatment are of utmost importance in Duchenne Muscular Dystrophy (DMD). This neuromuscular disorder affects male children, causing...

  • Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients. Lee, Tomoko; Takeshima, Yasuhiro; Kusunoki, Noriko; Awano, Hiroyuki; Yagi, Mariko; Matsuo, Masafumi; Iijima, Kazumoto // Journal of Human Genetics;Jan2014, Vol. 59 Issue 1, p46 

    Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked inherited muscular disorders caused by mutations in the dystrophin gene. Two-thirds of DMD cases are thought to be caused by inheritance from carrier mothers and this study aimed to clarify and compare the carrier frequency of...

  • Carrier Detection of Duchenne Muscular Dystrophy by CPK Activity Testing and Conventional Needle EMG. Alsheikhly, Abdul-Muttalib Abdul-Kareem; Rabie, Salam Fouad; AL-Hamadani, Hasan Azeez // Iraqi Journal of Medical Sciences;2007, Vol. 5 Issue 3, p31 

    Background: Duchenne Muscular Dystrophy (DMD) is a dismal disease, which exhibits an Xlinked mood of inheritance, characterized by progressive proximal muscular weakness, beginning in early childhood, wheel chair dependency by early teens and death from cardiopulmonary complications by the end...

  • Duchenne and Becker muscular dystrophies: An Indian update on genetics and rehabilitation. Nadkarni, Jayshree J.; Dastur, Rashna S.; Viswanathan, V.; Gaitonde, Pradnya S.; Khadilkar, Satish V. // Neurology India;Jul2008, Vol. 56 Issue 3, p248 

    The application of molecular diagnostic techniques has greatly improved the diagnosis, carrier detection, prenatal testing and genetic counseling for families with Duchenne and Becker muscular dystrophy (D/BMD) in India. The prediction of Duchenne muscular dystrophy (DMD) patients to have...

  • Molecular Diagnosis of Duchenne/Becker Muscular Dystrophy: Analysis of Exons Deletion and Carrier Detection. Akbari, Mohammad Taghi; Karizi, Shohreh Zare; Nafisi, Shahryar; Zamani, Gholamreza // Yakhteh Medical Journal;Autumn2010, Vol. 12 Issue 3, p421 

    Objective: Duchenne and Becker Muscular Dystrophy (DMD and BMD) are X-linked conditions resulting from a defect in the dystrophin gene located at Xp21 .2. DMD is the most frequent neuromuscular disease in humans (1/3500 male newborns). In approximately 65% of DMD and BMD patients, deletions in...

  • Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy. Verma, Prashant K.; Dalal, Ashwin; Mittal, Balraj; Phadke, Shubha R. // Indian Journal of Human Genetics;Jan-Apr2012, Vol. 18 Issue 1, p91 

    CONTEXT: Multiplex ligation probe amplification (MLPA) is a new technique to identify deletions and duplications and can evaluate all 79 exons in dystrophin gene in patients with Duchenne muscular dystrophy (DMD). Being semiquantitative, MLPA is also effective in detecting duplications and...

  • Diagnostic Strategy for the Detection of Dystrophin Gene Mutations in Asian Patients and Carriers Using Immortalized Cell Lines. Kiat Hong Tay, Stacey; Hwee Hoon Khng; Poh Sim Low; Poh San Lai // Journal of Child Neurology;Feb2006, Vol. 21 Issue 2, p150 

    Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive diseases of muscle degeneration caused by mutations in the dystrophin gene. More than half of our local Asian patients have point mutations that cannot be detected by conventional multiplex polymerase chain reaction...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics