Evaluation of dystrophin gene deletion patterns in a large Duchenne/Becker muscular dystrophy patient sample; 17 years experience from one Turkish Diagnostic Center

Mehveş PODA; Filiz GÜÇLÜ GEYİK; Neslihan Çoban; Beyhan Tüysüz; Gamze Güven; Evrim Kömürcü Bayrak; Nihan Erginel Unaltuna

Makale detayları

Evaluation of dystrophin gene deletion patterns in a large Duchenne/Becker muscular dystrophy patient sample; 17 years experience from one Turkish Diagnostic Center

Yazarlar:

Mehveş PODA | Filiz GÜÇLÜ GEYİK | Neslihan Çoban | Beyhan Tüysüz | Gamze Güven | Evrim Kömürcü Bayrak | Nihan Erginel Unaltuna

Yayıncı:

Istanbul University

Ana Başlıklar:

Sağlık teşvikleri

Dergi:

Journal of Experimental Medicine 2017 Vol.7 Issue 14, pp.50-61

Belge Tipi:

Makale

Yayın Tarihi:

12/2017

Belge Dili:

İngilizce

Document ID (Org No.):

2000429069

eISSN:

2667-5846

Özet:

 


Background: Duchenne/Becker muscular dystrophy (DMD/BMD) is an X-linked recessive diseaseresults from mutations in the dystrophin gene. We established the deletion pattern profile in unrelatedDMD/BMD patients using multiplex PCR (M-PCR). Methods: During 1998-2015, 1,385 unrelatedDeletionanalysis in the dystrophin(DMD) gene was performed.Results: Of all patients admitted, 42.6% deletioncarriers (n=589) were detected, of which 180 (80.3 %)were carrying single exon deletions and 409 (14.8%) multiple exon deletions. Deletions covering the major hotspot region were 80.3 %, the minor region14.8% and 2.4% covered both regions. The mean age of diagnosis of patients with out-of-framedeletions (7.27 year) was notably lower than the cases with in frame deletions (17.54 year). No singleexon 4 deletion was detected.Conclusions: When the known deletion hotspots are considered, thestudy population showed a similar deletion pattern with other populations. The mean age of patients without-of-frame deletions were lower than mean age of those with in-frame deletions, in concordance withthe reading frame hypothesis. Strikingly, no single exon 4 deletion was found, supporting the hypothesisthat absence of it might have no functional consequences

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Duchenne/Becker muscular dystrophy (DMD/BMD) is an X-linked recessive disease results from mutations in the dystrophin gene. We
established the deletion pattern profile in unrelated DMD/BMD patients using multiplex PCR (M-PCR). Methods: During 1998-2015, 1,385
unrelated DMD/BMD patients were admitted for genetic conﬁrmation and/or
exclusion of the disease. Deletion analysis in the dystrophin (DMD) gene was performed. Results: Of all patients admitted, 42.6
% deletion carriers (n=589) were detected, of which 180 (80.3 %) were carrying
single exon deletions and 409 (14.8 %) multiple exon deletions. Deletions
covering the major hotspot region were 80.3 %, the minor region 14.8% and 2.4%
covered both regions. The mean age
of diagnosis of patients with out-of-frame deletions (7.27 year) was notably
lower than the cases with in frame deletions (17.54 year). No single exon 4
deletion was detected. Conclusions: When the known
deletion hotspots are considered, the study population showed a similar
deletion pattern with other populations. The mean age of patients with
out-of-frame deletions were lower than mean age of those with in-frame
deletions, in concordance with the reading frame hypothesis. Strikingly, no
single exon 4 deletion was found, supporting the hypothesis that absence of it
might have no functional consequences. 


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Makale detayları

Evaluation of dystrophin gene deletion patterns in a large Duchenne/Becker muscular dystrophy patient sample; 17 years experience from one Turkish Diagnostic Center

Yazarlar: Mehveş PODA | Filiz GÜÇLÜ GEYİK | Neslihan Çoban | Beyhan Tüysüz | Gamze Güven | Evrim Kömürcü Bayrak | Nihan Erginel Unaltuna

Yayıncı: Istanbul University

Ana Başlıklar: Sağlık teşvikleri

Dergi: Journal of Experimental Medicine 2017 Vol.7 Issue 14, pp.50-61

Belge Tipi: Makale

Yayın Tarihi: 12/2017

Belge Dili: İngilizce

Document ID (Org No.): 2000429069

eISSN: 2667-5846

Sayı

Yazarlar:

Mehveş PODA | Filiz GÜÇLÜ GEYİK | Neslihan Çoban | Beyhan Tüysüz | Gamze Güven | Evrim Kömürcü Bayrak | Nihan Erginel Unaltuna

Yayıncı:

Istanbul University

Ana Başlıklar:

Sağlık teşvikleri

Dergi:

Journal of Experimental Medicine 2017 Vol.7 Issue 14, pp.50-61

Belge Tipi:

Makale

Yayın Tarihi:

12/2017

Belge Dili:

İngilizce

Document ID (Org No.):

2000429069

eISSN:

2667-5846