Paucisymptomatic hyperCKaemia due to a mutation in the ANO5 gene

Alcahut-Rodríguez, C.; Díaz-Maroto, Inmaculada; Fernández–Marmiesse, Ana; García-García, Jorge

doi:10.1016/j.nrleng.2018.10.019

Cited by 1 publication

(3 citation statements)

References 7 publications

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“…Indeed, asymptomatic hyperCKemia was the initial presentation in LGMDR1, LGMDR2, and LGMDR12 patients. Recent papers reported that patients with asymptomatic hy-perCKemia may have muscular dystrophy [Alcahut-Rodríguez et al, 2020;Lee et al, 2021]. It has been emphasized that patients with pathogenic changes in LGMD-related genes may present with asymptomatic CK elevation [Lee et al, 2021;Alcahut-Rodríguez et al, 2020;Contreras-Cubas et al, 2022].…”

Section: Discussionmentioning

confidence: 99%

“…Recent papers reported that patients with asymptomatic hy-perCKemia may have muscular dystrophy [Alcahut-Rodríguez et al, 2020;Lee et al, 2021]. It has been emphasized that patients with pathogenic changes in LGMD-related genes may present with asymptomatic CK elevation [Lee et al, 2021;Alcahut-Rodríguez et al, 2020;Contreras-Cubas et al, 2022]. There is a growing body of literature that recognizes that genetic analysis methods can detect patients while they are asymptomatic [Alcahut-Rodríguez et al, 2020;Lee et al, 2021].…”

Section: Discussionmentioning

confidence: 99%

“…It has been emphasized that patients with pathogenic changes in LGMD-related genes may present with asymptomatic CK elevation [Lee et al, 2021;Alcahut-Rodríguez et al, 2020;Contreras-Cubas et al, 2022]. There is a growing body of literature that recognizes that genetic analysis methods can detect patients while they are asymptomatic [Alcahut-Rodríguez et al, 2020;Lee et al, 2021]. Asymptomatic hyperCKemia can be the first clinical feature of a progressive muscular disorder requiring careful follow-up.…”

Section: Discussionmentioning

confidence: 99%

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Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels

Sarıkaya Uzan,

Yılmaz Uzman,

Çinleti

et al. 2023

Mol Syndromol

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Introduction: Limb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous muscle disorders. We aimed to share the diagnostic yield of an NGS gene panel containing LGMD-related genes and our experience with LGMD. Methods: Between February 2019 and October 2022, patients with a suspicion of LGMD and their relatives were reviewed in terms of demographic, clinical, and individual genetic data, age of symptom onset, sex, clinical features, LGMD types, cardiac involvement, muscle biopsy results, family history, and consanguinity. Our NGS gene panel consisted of ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, FKTN, FLNC, FRKP, GAA, GMPPB, HNRNPDL, ISPD, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRAPPC11, TRIM32, and TTN genes. Results: The diagnosis rate was 61.1% (11/18). Twelve (80%) patients with LGMD were male and three (20%) were female. The median age was 15.9 (range, 1.5–39) years. Our patient collective was drawn up out of patients with the following variants: LGMDR1 (n = 6; 40%), LGMDR2 (n = 4; 26.6%), LGMDR3 (n = 4; 26.6%), and LGMDR12 (n = 1; 6.7%). Conclusion: The present study showed that the NGS panel has a high success rate in the diagnosis of LGMD and contributes to early diagnosis.

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