Sarcolemmal Alpha and Gamma Sarcoglycan Protein Deficiencies in Turkish Siblings With a Novel Missense Mutation in the Alpha Sarcoglycan Gene

Diniz, Gülden; Yıldırım, Hülya Tosun; Akıncı, Gülçin; Hazan, Fılız; Öztürk, Aysel; Yararbaş, Kanay; Tükün, Ajlan

doi:10.1016/j.pediatrneurol.2013.12.024

Cited by 15 publications

(9 citation statements)

References 10 publications

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“…Similarly, two mutations caused by deletions generate a normal extracellular portion of α -SGC and truncated intracellular tails. At present, there is no data about the intracellular tail of the α -SGC protein and its function [1, 10–14]. In the family described in this report, we discovered a novel deletion in the TACACCC site of exon 3 that would cause a frame-shift mutation.…”

Section: Discussionmentioning

confidence: 66%

Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene

Diniz¹,

Yıldırım

Gökben

et al. 2014

Case Reports in Genetics

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Limb-girdle muscular dystrophy type 2D (LGMD-2D) is caused by autosomal recessive defects in the alpha-sarcoglycan gene located on chromosome 17q21. In this study, we present a child with alpha-sarcoglycanopathy and describe a novel deletion in the alpha-sarcoglycan gene. A 5-year-old boy had a very high serum creatinine phosphokinase level, which was determined incidentally, and a negative molecular test for the dystrophin gene. Muscle biopsy showed dystrophic features. Immunohistochemistry showed that there was diminished expression of alpha- and gamma-sarcoglycans. DNA analysis revealed a novel 7 bp homozygous deletion in exon 3 of the alpha-sarcoglycan gene. His parents were consanguineous heterozygous carriers of the same deletion. We believe this is the first confirmed case of primary alpha-sarcoglycanopathy with a novel deletion in Turkey. In addition, this study demonstrated that both muscle biopsy and DNA analysis remain important methods for the differential diagnosis of muscular dystrophies because dystrophinopathies and sarcoglycanopathies are so similar.

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Section: Discussionmentioning

confidence: 66%

Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene

Diniz¹,

Yıldırım

Gökben

et al. 2014

Case Reports in Genetics

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“…Reduced or absent sarcolemmal expression of one of the four SGCs can be found in patients with any type of LGMDs and also in patients with dystrophinopathies. It has previously been suggested that different patterns of SGC expression could predict the primary genetic defect, and that genetic analysis could be directed by these patterns [ 2 , 7 - 11 ]. However, Klinge et al .…”

Section: Discussionmentioning

confidence: 99%

Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene

Diniz¹,

Tekgül

Hazan

et al. 2015

Balkan Journal of Medical Genetics

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Limb-girdle muscular dystrophy type 2E (LGMD-2E) is caused by autosomal recessive defects in the beta sarcoglycan (SGCB) gene located on chromosome 4q12. In this case report, the clinical findings, histopathological features and molecular genetic data in a boy with β sarcoglycanopathy are presented. An 18-month-old boy had a very high serum creatinine phosphokinase (CPK) level that was accidentally determined. The results of molecular analyses for the dystrophin gene was found to be normal. He underwent a muscle biopsy which showed dystrophic features. Immunohistochemistry showed that there was a total loss of sarcolemmal sarcoglycan complex. DNA analysis revealed a large homozygous deletion in the SCGB gene. During 4 years of follow-up, there was no evidence to predict a severe clinical course except the muscle enzyme elevation and myopathic electromyography (EMG) finding. The presented milder phenotype of LGMD-2E with a large deletion in the SGCB gene provided additional support for the clinical heterogeneity and pathogenic complexity of the disease.

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“…After this report, we have also diagnosed 19 new patients (3 siblings) with LGMD. Interestingly some of these patients presented with multiple sarcoglycan defects (8)(9)(10) . In addition, dystrophin gene mutations were determined in a sibling who demonstrated permanent gamma-sarcoglycan deficiency with normal dystrophin expression as detected on the histopathological examination of the muscle biopsy specimen (Table 1).…”

Section: Dear Editorsmentioning

confidence: 99%

“…Probably, many male patients with LGMD might be underestimated, and these patients might be misdiagnosed as having DMD or BMD (8)(9)(10) . If these patients can be subjected to appropriate immunohistochemical examinations and molecular analysis, then normal staining pattern of dystrophin can be revealed, and an autosomal recessive mode of inheritance can be disclosed.…”

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

confidence: 99%

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

Dınız¹,

Unalp²,

Hazan³

et al. 2017

BUCH

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Sarcolemmal Alpha and Gamma Sarcoglycan Protein Deficiencies in Turkish Siblings With a Novel Missense Mutation in the Alpha Sarcoglycan Gene

Cited by 15 publications

References 10 publications

Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene

Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene

Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene

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

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