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A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype

Title
A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype
Authors
Nam, Tai-SeungLi, WentingHeo, Suk-HeeLee, Kyung-HwaCho, AnnaShin, Jin-HongKim, Young OkChae, Jong-HeeKim, Dae-SeongKim, Myeong-KyuChoi, Seok-Yong
Ewha Authors
조안나
SCOPUS Author ID
조안나scopus
Issue Date
2015
Journal Title
NEUROMUSCULAR DISORDERS
ISSN
0960-8966JCR Link1873-2364JCR Link
Citation
vol. 25, no. 11, pp. 843 - 851
Keywords
Limb-girdle muscular dystrophyDNAJB6ZebrafishMagnetic resonance imagingHuman genetics
Publisher
PERGAMON-ELSEVIER SCIENCE LTD
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
To identify and characterize genetic mutation in a Korean family with limb-girdle muscular dystrophy 1 (LGMD1), we analyzed in the affected family members clinical features, DNAJB6 by Sanger sequencing, muscle structures by magnetic resonance imaging (MRI), and functional consequences of the identified mutation using a zebrafish model. The clinical phenotypes along with identification of a novel c.271T > C (p.(Phe91Leu)) mutation in DNAJB6 led to the diagnosis of LGMD ID in the affected family members. This mutation presents unique clinical and radiological features compared with other DNAJB6 mutants. All affected members examined showed reduced pulmonary function, and had nasal voice and dysphagia except the two members who were thirteen and twelve years of age at the time of examination. Muscle phenotypes developed between 8 and 11 years of age and were more severe as compared to previously reported LGMD1D patients with mutant DNAJB6. Patients' MRI scans exhibited early involvement of the lateral head of gastrocnemius, in contrast to its late involvement in reported LGMD1D cases. Functional study using zebrafish embryos demonstrated that p.Phe91Leu elicits more severe muscle defects than the reported p.Phe93Leu and p.Pro96Arg mutations. We conclude that a novel p.(Phe91Leu) mutation in DNAJB6 is associated with severe childhood-onset LGMD1D. (C) 2015 Elsevier B.V. All rights reserved.
DOI
10.1016/j.nmd.2015.08.002
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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