A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein

Rashmi Santhoshkumar, Veeramani Preethish-Kumar, Kiran Polavarapu, Dinesh Reghunathan, Sima Chaudhari, Kapaettu Satyamoorthy, Seena Vengalil, Saraswati Nashi, Muhammed Faruq, Aditi Joshi, Nalini Atchayaram, Gayathri Narayanappa

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


Desminopathies (MIM*601419) are clinically heterogeneous, manifesting with myopathy and/or cardiomyopathy and with intra-sarcoplasmic desmin-positive deposits. They have either an autosomal dominant (AD) or recessive (AR) pattern of inheritance. Desmin is a crucial intermediate filament protein regulating various cellular functions in muscle cells. Here, we report a 13-year-old girl, born of second-degree consanguineous parents, with normal developmental milestones, who presented with dilated cardiomyopathy, respiratory insufficiency and predominant distal upper limb weakness. A striking feature on muscle biopsy was the presence of a peripheral chain of nuclei in addition to myopathic features. Immunostaining showed complete lack of desmin expression, further confirmed by western blot analysis. Ultrastructurally, subsarcolemmal granular material, expanded Z-band aggregation, distortion of myofilaments, focal Z-band streaming, lobed and clustered myonuclei were observed. Next-generation sequencing revealed a novel homozygous nonsense mutation c.448C>T, p.R150X in the patient, while the parents were heterozygous carriers. Single mitochondrial DNA deletion and isolated complex IV deficiency were noted. Our findings add to the ever-expanding phenotype and molecular spectrum of desminopathies.

Original languageEnglish
Pages (from-to)2468 - 2473
JournalJournal of Molecular Neuroscience
Issue number12
Publication statusPublished - 12-2021

All Science Journal Classification (ASJC) codes

  • Cellular and Molecular Neuroscience


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