A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

Neuromuscular Disorders : NMD
Roberta BrusaGiacomo Pietro Comi

Abstract

Limb girdle muscular dystrophy (LGMD) type 2G is a rare form of muscle disease, described only in a few patients worldwide, caused by mutations in TCAP gene, encoding the protein telethonin. It is characterised by proximal limb muscle weakness associated with distal involvement of lower limbs, starting in the first or second decade of life. We describe the case of a 37-year-old woman of Greek origin, affected by disto-proximal lower limb weakness. No cardiac or respiratory involvement was detected. Muscle biopsy showed myopathic changes with type I fibre hypotrophy, cytoplasmic vacuoles, lipid overload, multiple central nuclei and fibre splittings; ultrastructural examination showed metabolic abnormalities. Next generation sequencing analysis detected a homozygous frameshift mutation in the TCAP gene (c.90_91del), previously described in one Turkish family. Immunostaining and Western blot analysis showed complete absence of telethonin. Interestingly, Single Nucleotide Polymorphism analysis of the 10 Mb genomic region containing the TCAP gene showed a shared homozygous haplotype of both the Greek and the Turkish patients, thus suggesting a possible founder effect of TCAP gene c.90_91del mutation in this part of the Mediterranean...Continue Reading

References

Jul 1, 1997·American Journal of Human Genetics·E S MoreiraM R Passos-Bueno
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Mar 9, 1999·American Journal of Medical Genetics·M R Passos-BuenoM Zatz
Dec 8, 2004·Journal of the American College of Cardiology·Takeharu HayashiAkinori Kimura
Apr 29, 2008·Neuromuscular Disorders : NMD·Chad D MarkertMartin K Childers
May 3, 2011·Neuromuscular Disorders : NMD·Ana FerreiroNorma Beatriz Romero
Mar 13, 2013·Journal of Molecular Neuroscience : MN·Julia F PaimMariz Vainzof
Jul 24, 2014·PloS One·Amirtharaj FrancisKumarasamy Thangaraj
Mar 1, 2015·Neuromuscular Disorders : NMD·Rita BarresiVolker Straub
Aug 5, 2015·Neurology India·Atchayaram NaliniVeeramani Preethish-Kumar
Oct 30, 2016·Neuromuscular Disorders : NMD·Carlos Pablo de Fuenmayor-Fernández de la HozCristina Domínguez-González
Jul 2, 2017·Neuromuscular Disorders : NMD·Elena IkenbergMaggie C Walter

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Citations

Aug 8, 2020·Neurogenetics·Xiaoqing LvChuanzhu Yan
Mar 2, 2021·Curēus·Bruno BordoniLuigi Pianese
Apr 4, 2021·International Journal of Molecular Sciences·Kirsty WadmoreKatja Gehmlich

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