Understanding Titin Variants in the Age of Next-Generation Sequencing—A Titanic Challenge

Bönnemann, Carsten G.

doi:10.1001/jamaneurol.2017.3068

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“…Commercial testing laboratories have variable methods and practices with respect to the detection, interpretation, and reporting of genetic variants (Shah et al, 2018; Yang et al, 2013), particularly for TTN (Bönnemann, 2018). Some laboratories report rare TTN missense variants as variants of uncertain significance (VUS), while others consider missense variants benign and do not report them.…”

Section: Introductionmentioning

confidence: 99%

Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

Rich

Moscarello

Siskind

et al. 2020

Molec Gen & Gen Med

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Section: Introductionmentioning

confidence: 99%

Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

Rich

Moscarello

Siskind

et al. 2020

Molec Gen & Gen Med

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Heterozygous missense variant in the TTN gene causing Tibial muscular dystrophy

Panwar

Singh

Mathur

et al. 2022

Egypt J Med Hum Genet

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Background Tibial muscular dystrophy (TMD), tardive, is a dominantly inherited mild degenerative disorder of anterior tibial muscles. Mutations of Titin (TTN) have been reported in patients with different phenotypes such as skeletal muscular abnormalities or complex overlapping disorders of muscles. Titin (TTN) is a large 363 exon gene that encodes an abundant protein (the longest polypeptide known in nature) expressed in the heart and skeletal muscles. Methods DNA from peripheral blood sample was extracted, whole exome sequencing (WES) was performed, and a neuromuscular disorders related gene-filtering strategy was used to analyse the disease-causing mutations. Further, sanger sequencing was applied to confirm the variant. Results A novel missense variant (c.41529G > C;p.Arg13843Ser) of TTN gene was identified in a patient with lower limb weakness, occasional tongue fasciculation and mild scoliosis. This variant leads to a substitution of arginine with serine, causing structural changes in titin protein that is responsible for the TMD disease. Conclusion The novel variant detected has widened the genetic spectrum of TTN-associated diseases, further functional studies will aid in establishing the clinical diagnosis.

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Understanding Titin Variants in the Age of Next-Generation Sequencing—A Titanic Challenge

Cited by 2 publications

References 17 publications

Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

Heterozygous missense variant in the TTN gene causing Tibial muscular dystrophy

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