What question did this study set out to answer?

To develop a reliable molecular method to detect proximally extended genomic deletions involving both D4F104S1 and D4Z4 repeat arrays in facioscapulohumeral muscular dystrophy.

July 22, 2003Neurology

D4F104S1 deletion in facioscapulohumeral muscular dystrophy

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Population

Three families with facioscapulohumeral muscular dystrophy who failed to exhibit a small EcoRI fragment…

Design

Case_series

Authors

RLRichard J.L.F. LemmersLeiden University Medical Center MOM. OsbornRadboud University Nijmegen THThomas HaafUniversity of Würzburg

Discussion

Member takes

Implication

May aid FSHD molecular diagnosis in select families; leaves open validation before routine clinical adoption.

Key Points

To develop a reliable molecular method to detect proximally extended genomic deletions involving both D4F104S1 and D4Z4 repeat arrays in facioscapulohumeral muscular dystrophy.
Analyzed high-molecular-weight DNA from three families whose affected members lacked typical small (<38-kb) EcoRI fragments during routine screening.
Employed conventional and pulsed-field gel electrophoresis with DNA probes p13E-11, 9B6A, B31, 4qA, and 4qB, combined with MseI restriction enzyme digests.
Identified distinct, large genomic deletions encompassing both the D4Z4 repeat array and proximal D4F104S1 marker across all three families.
Established a standard gel electrophoresis method utilizing telomeric probe 4qA to reliably detect extended D4Z4 and D4F104S1 deletions without requiring pulsed-field analysis.

Structured PICO

Population

Three families with facioscapulohumeral muscular dystrophy (FSHD) who failed to exhibit a small (<38-kb) EcoRI fragment during routine analysis.

Intervention

DNA analysis using conventional and pulsed-field gel electrophoresis with DNA markers p13E-11, 9B6A, B31, 4qA, and 4qB, and MseI restriction enzyme digest.

Outcome

Identification of large genomic deletions involving D4Z4 and D4F104S1.surrogate

A new assay using the 4qA telomeric probe allows for the identification of proximally extended deletions in FSHD patients using conventional gel electrophoresis, improving molecular diagnostic accuracy.

Cite This Study

Lemmers et al. (2003) studied this question.

synapsesocial.com/papers/6a8580afd06b31cc19d0c2e6 https://doi.org/10.1212/01.wnl.0000078889.51444.81

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D4F104S1 deletion in facioscapulohumeral muscular dystrophy

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

D4F104S1 deletion in facioscapulohumeral muscular dystrophy

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

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