Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

Neuromuscular Disorders : NMD
Johanna PalmioBjarne Udd

Abstract

DNAJB6 is the causative gene for limb-girdle muscular dystrophy 1D (LGMD1D). Four different coding missense mutations, p.F89I, p.F93I, p.F93L, and p.P96R, have been reported in families from Europe, North America and Asia. The previously known mutations cause mainly adult-onset proximal muscle weakness with moderate progression and without respiratory involvement. A Finnish family and a British patient have been studied extensively due to a severe muscular dystrophy. The patients had childhood-onset LGMD, loss of ambulation in early adulthood and respiratory involvement; one patient died of respiratory failure aged 32. Two novel mutations, c.271T > A (p.F91I) and c.271T > C (p.F91L), in DNAJB6 were identified by whole exome sequencing as a cause of this severe form of LGMD1D. The results were confirmed by Sanger sequencing. The anti-aggregation effect of the mutant DNAJB6 was investigated in a filter-trap based system using transient transfection of mammalian cell lines and polyQ-huntingtin as a model for an aggregation-prone protein. Both novel mutant proteins show a significant loss of ability to prevent aggregation.

References

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Citations

Feb 6, 2016·Acta Neuropathologica Communications·Satu SandellBjarne Udd
Oct 18, 2016·Frontiers in Molecular Biosciences·Alessandra RuggieriMarina Mora
Feb 14, 2018·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·P H JonsonB Udd
Dec 6, 2017·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Christina ZarouchliotiMichael E Cheetham
Sep 7, 2018·Yonsei Medical Journal·Josef Finsterer
Sep 7, 2018·Yonsei Medical Journal·Kitae Kim, Young Chul Choi
Feb 26, 2020·International Journal of Molecular Sciences·Jaakko SarparantaBjarne Udd
Jan 11, 2020·Frontiers in Microbiology·Shih-Han KoWoan-Yuh Tarn
Dec 20, 2018·Annals of Clinical and Translational Neurology·Babi Ramesh Reddy NallamilliMadhuri Hegde
Jul 9, 2016·Current Opinion in Neurology·Rudolf A KleyRolf Schröder
Feb 10, 2021·Acta Neuropathologica Communications·Fang-Yuan QianZhi-Jun Zhang
Jan 21, 2020·Neuromuscular Disorders : NMD·Johanna PalmioBjarne Udd

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