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Whole genome sequencing identifies novel structural variant in a large Indian family affected with X-linked agammaglobulinemia.

PloS one - 1 Jan 2021

Jain Abhinav, Govindaraj Geeta Madathil, Edavazhippurath Athulya, Faisal Nabeel, Bhoyar Rahul C, Gupta Vishu, Uppuluri Ramya, Manakkad Shiny Padinjare, Kashyap Atul, Kumar Anoop, Divakar Mohit Kumar, Imran Mohamed, Sawant Sneha, Dalvi Aparna, Chakyar Krishnan, Madkaikar Manisha, Raj Revathi, Sivasubbu Sridhar, Scaria Vinod

Abstract excerpt

X-linked agammaglobulinemia (XLA, OMIM #300755) is a primary immunodeficiency disorder caused by pathogenic variations in the BTK gene, characterized by failure of development and maturation of B lymphocytes. The estimated prevalence worldwide is 1 in 190,000 male births. Recently, genome sequencing has been widely used in difficult to diagnose and familial cases. We report a large Indian family suffering from...

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PMID: 34252140
DOI: 10.1371/journal.pone.0254407
PMCID: PMC8274882

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