August 16, 2012BMC Medical GeneticsOpen Access

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

Q: What is the clinical evidence from this study?

Study design: Observational. Population: Duchenne Muscular Dystrophy (DMD) carriers (n=18). Intervention: Skewed X-chromosome inactivation and DMD allele transcriptional balancing vs. Random X-inactivation / Asymptomatic phenotype. Primary outcome: Relationship between X-inactivation pattern, transcriptional balancing, and symptomatic phenotype.

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Key result

Skewed X-chromosome inactivation and preferential expression of the mutated DMD allele showed no relationship with the manifestation of dystrophic symptoms in female carriers.

Population

18 females showing a mosaic pattern of dystrophin expression on muscle biopsy, classified as symptomatic or…

Design

Cross-sectional

Authors

SBSimona BrioschiMario Negri Institute for Pharmacological Research FGFrancesca GualandiAzienda Ospedaliera Sant'Andrea CSC. ScottonUniversità degli Studi del Piemonte Orientale “Amedeo Avogadro”

Discussion

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Implication

X-inactivation testing should not inform counseling or risk stratification in DMD carriers; leaves open other modifiers of variable penetrance.

Study Design

Type

Observational (n=18)

Multicenter

Yes

Structured PICO

Population

18 female carriers of Duchenne muscular dystrophy mutations, including 7 symptomatic and 11 asymptomatic individuals, evaluated for genetic and transcriptional patterns.

Outcome

Relationship between dystrophic phenotype, X-inactivation pattern, and allele transcriptional balancingsurrogate

In female DMD carriers, neither the X-inactivation pattern nor the transcriptional behavior of the DMD gene correlates with the symptomatic phenotype.

Limitations

Early age at clinical assessment for some children, meaning phenotype could change at later ages
Lack of extensive protein data, with Western blot available for only two females

Cite This Study

Brioschi et al. (2012) conducted an observational in Duchenne Muscular Dystrophy (DMD) carriers (n=18). Skewed X-chromosome inactivation and DMD allele transcriptional balancing vs. Random X-inactivation / Asymptomatic phenotype was evaluated on Relationship between X-inactivation pattern, transcriptional balancing, and symptomatic phenotype. Skewed X-chromosome inactivation and preferential expression of the mutated DMD allele showed no relationship with the manifestation of dystrophic symptoms in female carriers.

synapsesocial.com/papers/6a96ad47a45595e5080e3360 https://doi.org/10.1186/1471-2350-13-73

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Implication

X-inactivation testing should not inform counseling or risk stratification in DMD carriers; leaves open other modifiers of variable penetrance.

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

Discussion

Member takes

Implication

Study Design

Structured PICO

Limitations

Cite This Study

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

Discussion

Member takes

Implication

Study Design

Structured PICO

Limitations

Cite This Study

Also Consider

Also Consider