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Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C

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Abstract

The clinico-genetic architecture of sarcoglycanopathies in Indian patients is reported only as short series. In the present study, we aimed to investigate the clinical picture, genetic basis, and disease progression of patients genetically confirmed to have sarcoglycanopathy. Next-generation sequencing was performed in 68 probands with suspected sarcoglycanopathy. A total of 35 different variants were detected in the sarcoglycan genes in 68 probands (M = 37; age range, 5–50 years). Consanguinity was present in 44 families. Thirty-two variants are predicted to be pathogenic/likely pathogenic, among which 25 (78.13%) are reported, and 7 (21.87%) are novel. The clinical diagnosis was confirmed in a total of 64 (94.12%) probands with biallelic variations [SGCA(n=18); SGCB(n=34); SGCG(n=7); SGCD(n=5)]. The most common mutation was c.544A > C (p.Thr182Pro) in SGCB, and detected in 20 patients (29.42%). The majority of pathogenic mutations are homozygous (n = 30; 93.75%). Variants in 4 cases are of uncertain significance. Thirty-three patients lost ambulation at a mean age of 15.12 ± 9.47 years, after 7.76 ± 5.95 years into the illness. Only 2 patients had cardiac symptoms, and one had respiratory muscle involvement. The results from this study suggest that mutations in SGCB are most common, followed by SGCA, SGCG, and SGCD. The novel variations identified in this study expand the mutational spectrum of sarcoglycanopathies. To the best of our knowledge, this is the first study from India to describe a large cohort of genetically confirmed patients with sarcoglycanopathy and report its disease progression.

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Data availability

The data that support the findings of this study are available from the corresponding author upon reasonable request.

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The authors thank the patients and their families in this study.

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  1. Mainak Bardhan

    Present address: ICMR-National Institute of Cholera and Enteric Diseases (NICED), Kolkata, India

Authors and Affiliations

  1. Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health And Neurosciences (NIMHANS), Karnataka, 560029, Bengaluru, India

    Mainak Bardhan, Ram Murthy Anjanappa, Kiran Polavarapu, Veeramani Preethish-Kumar, Seena Vengalil, Saraswati Nashi, Hansashree Padmanabh, Ravi Kiran Valasani, Vikas Nishadham, Muddasu Keerthipriya & Atchayaram Nalini

  2. National Institute of Biomedical Genomics, Kalyani, India

    Shamita Sanga & Moulinath Acharya

  3. Medgenome, MedgenomeLabs, Bommasandra, Bangalore, India

    Thenral S. Geetha & Vedam Ramprasad

  4. Department of Human Genetics, National Institute of Mental Health And Neurosciences (NIMHANS), Karnataka, 560029, Bengaluru, India

    Gautham Arunachal

  5. Department of Psychiatric Social Work, National Institute of Mental Health And Neurosciences (NIMHANS), Karnataka, 560029, Bengaluru, India

    Priya Treesa Thomas

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Bardhan, M., Anjanappa, R.M., Polavarapu, K. et al. Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C. Neurogenetics 23, 187–202 (2022). https://doi.org/10.1007/s10048-022-00690-9

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