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Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene.

Abstract：

:Examination of the carrier state was performed in 744 unrelated mothers of the Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) probands with identified mutations in the dystrophin gene. Owing to that it was possible to assess frequency and type of new mutations in the gene. Contrary to the Japanese observations of Lee et al. published in this journal, we did not find significant differences in the carrier frequency between mothers of DMD and BMD patients. However, we found that new mutations in patients with deletions were significantly more frequent than in those with duplications and small mutations: of 564 unrelated patients with deletions, 236 (41.8%) carried new mutations, the respective values for duplications and small mutations were 21 of 95 patients (22.1%) and 18 of 85 patients (21.2%)-the differences highly significant (P<0.0001).

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Zimowski JG,Pawelec M,Purzycka JK,Szirkowiec W,Zaremba J

doi

10.1038/jhg.2017.70

subject

Has Abstract

pub_date

2017-10-01 00:00:00

pages

885-888

issue

10

eissn

1434-5161

issn

1435-232X

pii

jhg201770

journal_volume

62

pub_type

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