Experiences in the molecular genetic and histopathological evaluation of calpainopathies.

Autor: Ozyilmaz B; Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Bornova Building, Sanayi Caddesi No 7, Bornova, Izmir, Turkey. drberk@gmail.com., Kirbiyik O; Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Bornova Building, Sanayi Caddesi No 7, Bornova, Izmir, Turkey., Ozdemir TR; Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Bornova Building, Sanayi Caddesi No 7, Bornova, Izmir, Turkey., Ozer OK; Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Bornova Building, Sanayi Caddesi No 7, Bornova, Izmir, Turkey., Kutbay YB; Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Bornova Building, Sanayi Caddesi No 7, Bornova, Izmir, Turkey., Erdogan KM; Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Bornova Building, Sanayi Caddesi No 7, Bornova, Izmir, Turkey., Guvenc MS; Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Bornova Building, Sanayi Caddesi No 7, Bornova, Izmir, Turkey., Arıkan Ş; Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Bornova Building, Sanayi Caddesi No 7, Bornova, Izmir, Turkey., Turk TS; Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Bornova Building, Sanayi Caddesi No 7, Bornova, Izmir, Turkey., Kale MY; Department of Neurology, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey., Uludag IF; Department of Neurology, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey., Baydan F; Department of Pediatrics, Division of Pediatric Neurology, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey., Sertpoyraz F; Department of Physical Ther. and Rehab, Bakircay University Cigli Training and Research Hospital, Izmir, Turkey., Gencpinar P; Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Izmir Katip Celebi University, Izmir, Turkey., Diniz G; School of Medicine, Department of Pathology, İzmir Demokrasi University, Izmir, Turkey.
Jazyk: angličtina
Zdroj: Neurogenetics [Neurogenetics] 2022 Apr; Vol. 23 (2), pp. 103-114. Date of Electronic Publication: 2022 Feb 14.
DOI: 10.1007/s10048-022-00687-4
Abstrakt: Calpainopathy is mainly characterized by symmetric and progressive weakness of proximal muscles. Several reports showed that the most common LGMD subtype is LGMDR1 or calpainopathy, which had previously been defined as LGMD2A. Until now, more than 500 likely pathogenic/pathogenic variants in the CAPN3 gene have been reported. However, a clear genotype-phenotype association had not yet been established and this causes major difficulties in predicting the prognosis in asymptomatic patients and in providing genetic counseling for prenatal diagnosis. In this report, we aimed to add new data to the literature by evaluating 37 patients with likely pathogenic/pathogenic variants for the detected variants' nature, patients' phenotypes, and histopathological features. As a result, the general clinical presentation of the 23 different variants was presented, the high frequency of NM_000070.3:c.550delA mutation in Exon 4 was discussed, and some novel genotype-phenotype associations were suggested. We have underlined that calpainopathy can be misdiagnosed with inflammatory myopathies histopathologically. We have also emphasized that, in young or adult patients with mild to moderate proximal muscle weakness and elevated CK levels, calpainopathy should be the first suspected diagnosis.
(© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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