KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.

Autor:	Buchignani B; Department of Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.; Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, 56126 Pisa, Italy., Marinella G; Department of Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy., Pasquariello R; Department of Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy., Sgherri G; Department of Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy., Frosini S; Department of Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy., Santorelli FM; Molecular Medicine and Neurogenetics Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy., Orsini A; Pediatric Neurology, Azienda Ospedaliera Universitaria Pisana, 56100 Pisa, Italy., Battini R; Department of Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy., Astrea G; Department of Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Jazyk:	angličtina
Zdroj:	Genes [Genes (Basel)] 2024 Feb 05; Vol. 15 (2). Date of Electronic Publication: 2024 Feb 05.
DOI:	10.3390/genes15020208
Abstrakt:	Background: Mutations in the KLHL40 gene are a common cause of severe or even lethal nemaline myopathy. Some cases with mild forms have been described, although the cases are still anecdotal. The aim of this paper was to systematically review the cases described in the literature and to describe a 12-year clinical and imaging follow-up in an Italian patient with KLHL40- related myopathy in order to suggest possible follow-up measurements. Methods: Having searched through three electronic databases (PubMed, Scopus, and EBSCO), 18 articles describing 65 patients with homozygous or compound heterozygous KLHL40 mutations were selected. A patient with a KLHL40 homozygous mutation (c.1582G>A/p.E528K) was added and clinical and genetic data were collected. Results: The most common mutation identified in our systematic review was the (c.1516A>C) followed by the (c.1582G>A). In our review, 60% percent of the patients died within the first 4 years of life. Clinical features were similar across the sample. Unfortunately, however, there is no record of the natural history data in the surviving patients. The 12-year follow-up of our patient revealed a slow improvement in her clinical course, identifying muscle MRI as the only possible marker of disease progression. Conclusions: Due to its clinical and genotype homogeneity, KLHL40-related myopathy may be a condition that would greatly benefit from the development of new gene therapies; muscle MRI could be a good biomarker to monitor disease progression.
Databáze:	MEDLINE
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