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. 2024 Nov;106(5):650-658.
doi: 10.1111/cge.14590. Epub 2024 Jul 14.

Genetics of 67 patients of suspected primary ciliary dyskinesia from India

Kana Ram Jat  1 , Mohammed Faruq  2 , Shishir Jindal  1 , Shreya Bari  2 , Akshita Soni  1 , Pooja Sharma  2 , Susi Mathews  2 , Uzma Shamim  2 , Vanshika Ahuja  2 , Bharathram Uppilli  2 , Subhash C Yadav  3 , Rakesh Lodha  1 , Sudheer K Arava  4 , Sushil K Kabra  1
Affiliations

Genetics of 67 patients of suspected primary ciliary dyskinesia from India

Kana Ram Jat et al. Clin Genet. 2024 Nov.

Abstract

Data are limited on the genetic profile of primary ciliary dyskinesia (PCD) from developing countries. Here, we report one of the first study on genetic profile of patients with suspected PCD from India. In this prospective cross-sectional study, we enrolled 162 children with suspected PCD. We recorded clinical features, relevant laboratory tests for PCD and performed whole exome sequencing (WES). We are reporting 67 patients here who had positive variant/s on WES. We had 117 variants in 40 genes among 67 patients. Among the 108 unique variants, 33 were categorized as pathogenic or likely pathogenic (P/LP). We had nine novel variants in out cohort. The 29 definite PCD cases, diagnosed by composite reference standards, had variants in 16 genes namely LRRC6/DNAAF11 (5), DNAH5 (3), CCDC39 (3), HYDIN (3), DNAH11 (2), CCDC40 (2), CCDC65 (2) and one each DNAAF3, DNAAF2, CFAP300, RPGR, CCDC103, CCDC114, SPAG1, DNAI1, and DNAH14. To conclude, we identified 108 unique variants in 40 genes among 67 patients. The common genes involved in definite cases of PCD in Indian patients were LRRC6, DNAH5, CCDC39, and HYDIN. Our findings suggest a need to develop a separate genetic panel for PCD in the Indian population.

Keywords: Kartagener syndrome; mutation; primary ciliary dyskinesia.

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