Whole Exome Sequencing Identifies a Novel Mutation in ADGRV1 Responsible For Usher 2C Syndrome in a Large Inbred Family.

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Juan Carlos Kuan
Juan Carlos Kuan
2
Maria Alexandra Angel
Maria Alexandra Angel
3
Juan Pablo Bernal
Juan Pablo Bernal
4
María Teresa Piñeros
María Teresa Piñeros
5
María Teresa Piñeros
María Teresa Piñeros

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GJSFR Volume 23 Issue G1

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Whole Exome Sequencing Identifies a Novel Mutation in ADGRV1 Responsible For Usher 2C Syndrome in a Large Inbred Family. Banner

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The objective of our study was to evaluate, in a population of Togolese People Living With HIV(PLWHIV), the agreement between three scores derived from the general population namely the Framingham score, the Systematic Coronary Risk Evaluation (SCORE), the evaluation of the cardiovascular risk (CVR) according to the World Health Organization.
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Abstrack-Introduction: High-throughput sequencing facilitates the diagnosis of Usher syndrome and other conditions involving deafness and blindness that are genetically related, with improvements not only in accurate diagnosis, time savings, and genotype-phenotype correlation. Advances in genomic sequencing also makes it possible to approach isolated or remotely located populations with community genetics methodologies.

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No external funding was declared for this work.

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The authors declare no conflict of interest.

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Juan Carlos Kuan. 2026. \u201cWhole Exome Sequencing Identifies a Novel Mutation in ADGRV1 Responsible For Usher 2C Syndrome in a Large Inbred Family.\u201d. Global Journal of Science Frontier Research - G: Bio-Tech & Genetics GJSFR-G Volume 23 (GJSFR Volume 23 Issue G1): .

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High-throughput sequencing uncovers genetic causes of rare syndromes influencing disease states.
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GJSFR Volume 23 Issue G1
Pg. 17- 21
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Crossref Journal DOI 10.17406/GJSFR

Print ISSN 0975-5896

e-ISSN 2249-4626

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GJSFR-G Classification: FoR Code: 1103
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v1.2

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September 28, 2023

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English

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Abstrack-Introduction: High-throughput sequencing facilitates the diagnosis of Usher syndrome and other conditions involving deafness and blindness that are genetically related, with improvements not only in accurate diagnosis, time savings, and genotype-phenotype correlation. Advances in genomic sequencing also makes it possible to approach isolated or remotely located populations with community genetics methodologies.

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Whole Exome Sequencing Identifies a Novel Mutation in ADGRV1 Responsible For Usher 2C Syndrome in a Large Inbred Family.

Juan Carlos Kuan
Juan Carlos Kuan
Maria Alexandra Angel
Maria Alexandra Angel
Juan Pablo Bernal
Juan Pablo Bernal
María Teresa Piñeros
María Teresa Piñeros
María Teresa Piñeros
María Teresa Piñeros

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