Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2c

Diniz, Gülden; Hazan, Fılız; Yıldırım, Hülya Tosun; Ünalp, Aycan; Polat, Muzaffer; Serdaroğlu, Gül; Güzel, Orkide; Bağ, Özlem; Seçıl, Yaprak; Özgönül, Figen; Türe, Sabiha; Akhan, Galip; Tükün, Ajlan

doi:10.5146/tjpath.2014.01239

Cited by 6 publications

(7 citation statements)

References 15 publications

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“…Slides were stained with hematoxylin-eosin, Masson's trichrome, modified Gomori's trichrome (Engel-Cunningham modification), oil red-O, Periodic Acid Schiff (PAS), and PAS with diastases stains. For enzyme histochemistry, Nicotinamide Adenine Dinucleotide tetrazolium reductase (NADH-TR), succinate dehydrogenase (SDH), cytochrome c oxidase (COX) and sequential COX-SDH reactions were undertaken [ 3 , 4 ].…”

Section: Methodsmentioning

confidence: 99%

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

Köse

Canda

Kağnıcı

et al. 2020

Molecular Genetics and Metabolism Reports

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Introduction Pathogenic variants in SURF1 , a nuclear-encoded gene encoding a mitochondrial chaperone involved in COX assembly, are one of the most common causes of Leigh syndrome (LS). Material-methods Sixteen patients diagnosed to have SURF1 -related LS between 2012 and 2020 were included in the study. Their clinical, biochemical and molecular findings were recorded. 10/16 patients were diagnosed using whole-exome sequencing (WES), 4/16 by Sanger sequencing of SURF1 , 1/16 via targeted exome sequencing and 1/16 patient with whole-genome sequencing (WGS). The pathogenicity of SURF1 variants was evaluated by phylogenetic studies and modelling on the 3D structure of the SURF1 protein. Results We identified 16 patients from 14 unrelated families who were either homozygous or compound heterozygous for SURF1 pathogenic variants. Nine different SURF1 variants were detected The c.769G > A was the most common variant with an allelic frequency of 42.8% (12/28), c.870dupT [(p.Lys291*); (8/28 28.5%)], c.169delG [(p.Glu57Lysfs*15), (2/24; 7.1%)], c.532 T > A [(p.Tyr178Asn); (2/28, 7.1%)], c.653_654delCT [(p.Pro218Argfs*29); (4/28, 14.2%)] c.595_597delGGA [(p.Gly199del); (1/28, 3.5%)], c.751 + 1G > A (2/28, 4.1%), c.356C > T [(p.Pro119Leu); (2/28, 3.5%)] were the other detected variants. Two pathogenic variants, C.595_597delGGA and c.356C > T, were detected for the first time. The c.769 G > A variant detected in 6 patients from 5 families was evaluated in terms of phenotype-genotype correlation. There was no definite genotype – phenotype correlation. Conclusions To date, more than 120 patients of LS with SURF1 pathogenic variants have been reported. We shared the clinical, molecular data and natural course of 16 new SURF1 defect patients from our country. This study is the first comprehensive research from Turkey that provides information about disease-causing variants in the SURF1 gene. The identification of common variants and phenotype of the SURF1 gene is important for understanding SURF1 related LS. Synopsis SURF1 gene defects are one of the most important causes of LS; patients have a homogeneous clinical and biochemical phenotype.

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Section: Methodsmentioning

confidence: 99%

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

Köse

Canda

Kağnıcı

et al. 2020

Molecular Genetics and Metabolism Reports

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“…On the contrary, patients with dystrophinopathy may demonstrate normal -regional absence or mosaic pattern of sarcolemmal staining patterns with anti-SGC antibodies. These variations in staining may signify that cell membrane-associated dystrophin glycoprotein complex may have different abnormal presentations (4) . Therefore, accurate diagnosis requires careful analysis using immunohistochemical staining in combination with genetic study (1,2) .…”

Section: G Diniz Et Al Combined Use Of Genetic and Immunohistochemmentioning

confidence: 99%

“…Although there were defective expressions of gamma-sarcoglycan protein in all biopsy specimens, the culprit genetic defects could be determined in only nine of them. Most cases had silent homozygous or heterozygous mutations (4)(5)(6)(7) . After this report, we have also diagnosed 19 new patients (3 siblings) with LGMD.…”

Section: Dear Editorsmentioning

confidence: 99%

“…Therefore immunohistochemical staining of muscle biopsy specimens is mandatory for accurate diagnosis (1)(2)(3) . In our earlier study, we reported 20 clinically diagnosed muscular dystrophy patients (4 siblings) with defective gamma-sarcoglycan expressions found in the histopathological examination of their muscle biopsy specimens (4) . Although there were defective expressions of gamma-sarcoglycan protein in all biopsy specimens, the culprit genetic defects could be determined in only nine of them.…”

Section: Dear Editorsmentioning

confidence: 99%

“…In summary, as an important corollary not only the primarily deficient SGC gene, but also all related genes should be analyzed. Besides, patterns of genetic complexity associated with LGMDs should be considered in the differential diagnosis of muscular dystrophies (2,4,(8)(9)(10)13) .…”

Section: G Diniz Et Al Combined Use Of Genetic and Immunohistochemmentioning

confidence: 99%

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Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2c

Cited by 6 publications

References 15 publications

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies

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