Genetics of 67 patients of suspected primary ciliary dyskinesia from India.

Autor: Jat KR; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Faruq M; CSIR Institute of Genomics and Integrative Biology, New Delhi, India., Jindal S; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Bari S; CSIR Institute of Genomics and Integrative Biology, New Delhi, India., Soni A; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Sharma P; CSIR Institute of Genomics and Integrative Biology, New Delhi, India., Mathews S; CSIR Institute of Genomics and Integrative Biology, New Delhi, India., Shamim U; CSIR Institute of Genomics and Integrative Biology, New Delhi, India., Ahuja V; CSIR Institute of Genomics and Integrative Biology, New Delhi, India., Uppilli B; CSIR Institute of Genomics and Integrative Biology, New Delhi, India., Yadav SC; Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India., Lodha R; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Arava SK; Department of Pathology, All India Institute of Medical Sciences, New Delhi, India., Kabra SK; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2024 Nov; Vol. 106 (5), pp. 650-658. Date of Electronic Publication: 2024 Jul 14.
DOI: 10.1111/cge.14590
Abstrakt: 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.
(© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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