Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene Article Swipe
Veena Halale Manjunath
,
S. G. Thenral
,
B. R. Lakshmi
,
Atchayaram Nalini
,
Akshi Bassi
,
K. Priya Karthikeyan
,
K. Piyusha
,
R. K. Menon
,
Aneil Malhotra
,
L. S. Praveena
,
Ram Murthy Anjanappa
,
Sakthivel Murugan
,
Kiran Polavarapu
,
Mainak Bardhan
,
Veeramani Preethish‐Kumar
,
Seena Vengalil
,
Saraswati Nashi
,
Shamita Sanga
,
Moulinath Acharya
,
Rajesh Raju
,
Vinitha Ramanath Pai
,
Vedam L. Ramprasad
,
Ravi Gupta
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1155/2023/4362273
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1155/2023/4362273
The sarcoglycanopathies are autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by the mutations in genes encoding the α, β, γ, and δ proteins which stabilizes the sarcolemma of muscle cells. The clinical phenotype is characterized by progressive proximal muscle weakness with childhood onset. Muscle biopsy findings are diagnostic in confirming dystrophic changes and deficiency of one or more sarcoglycan proteins. In this study, we summarized 1,046 LGMD patients for which a precise diagnosis was identified using targeted sequencing. The most frequent phenotypes identified in the patients are LGMDR1 (19.7%), LGMDR4 (19.0%), LGMDR2 (17.5%), and MMD1 (14.5%). Among the reported genes, each of CAPN3, SGCB, and DYSF variants was reported in more than 10% of our study cohort. The most common variant SGCB p.Thr182Pro was identified in 146 (12.5%) of the LGMD patients, and in 97.9% of these patients, the variant was found to be homozygous. To understand the genetic structure of the patients carrying SGCB p.Thr182Pro, we genotyped 68 LGMD patients using a whole genome microarray. Analysis of the array data identified a large ~1 Mb region of homozygosity (ROH) (chr4:51817441-528499552) suggestive of a shared genomic region overlapping the recurrent missense variant and shared across all 68 patients. Haplotype analysis identified 133 marker haplotypes that were present in ~85.3% of the probands as a double allele and absent in all random controls. We also identified 5 markers (rs1910739, rs6852236, rs13122418, rs13353646, and rs6554360) which were present in a significantly higher proportion in the patients compared to random control set ( n = 128 ) and the population database. Of note, admixture analysis was suggestive of greater proportion of West Eurasian/European ancestry as compared to random controls. Haplotype analysis and frequency in the population database indicate a probable event of founder effect. Further systematic study is needed to identify the communities and regions where the SGCB p.Thr182Pro variant is observed in higher proportions. After identifying these communities and//or region, a screening program is needed to identify carriers and provide them counselling.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- http://doi.org/10.1155/2023/4362273
- https://downloads.hindawi.com/journals/humu/2023/4362273.pdf
- OA Status
- hybrid
- Cited By
- 1
- References
- 36
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4361224418
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4361224418Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1155/2023/4362273Digital Object Identifier
- Title
-
Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB GeneWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-03-28Full publication date if available
- Authors
-
Veena Halale Manjunath, S. G. Thenral, B. R. Lakshmi, Atchayaram Nalini, Akshi Bassi, K. Priya Karthikeyan, K. Piyusha, R. K. Menon, Aneil Malhotra, L. S. Praveena, Ram Murthy Anjanappa, Sakthivel Murugan, Kiran Polavarapu, Mainak Bardhan, Veeramani Preethish‐Kumar, Seena Vengalil, Saraswati Nashi, Shamita Sanga, Moulinath Acharya, Rajesh Raju, Vinitha Ramanath Pai, Vedam L. Ramprasad, Ravi GuptaList of authors in order
- Landing page
-
https://doi.org/10.1155/2023/4362273Publisher landing page
- PDF URL
-
https://downloads.hindawi.com/journals/humu/2023/4362273.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
-
https://downloads.hindawi.com/journals/humu/2023/4362273.pdfDirect OA link when available
- Concepts
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Biology, Limb-girdle muscular dystrophy, Muscular dystrophy, Genetics, Gene, MutationTop concepts (fields/topics) attached by OpenAlex
- Cited by
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1Total citation count in OpenAlex
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2024: 1Per-year citation counts (last 5 years)
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36Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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