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Pulmonary Hypertension in a Patient With Kartagener’s Syndrome and a Novel Homozygous Nonsense Mutation in CCDC40 Gene: A Case Report

Dai, Hai-Long, Wang, Duolao ORCID: https://orcid.org/0000-0003-2788-2464, Guang, Xue-Feng and Zhang, Wei-Hua (2022) 'Pulmonary Hypertension in a Patient With Kartagener’s Syndrome and a Novel Homozygous Nonsense Mutation in CCDC40 Gene: A Case Report'. Frontiers in medicine, Vol 9, p. 860684.

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Abstract

Kartagener’s syndrome is a subgroup of primary ciliary dyskinesia (PCD), a genetically heterogeneous condition characterised by sinusitis, bronchiectasis, and situs in versus. Genetic testing has importance for their diagnosis. Here, we report a chinese patient with Kartagener’s syndrome. Transthoracic echocardiography showed severely elevated right ventricular systolic pressure. Right heart catheterisation demonstrated a pre-capillary pulmonary hypertension. Whole-exome sequencing indicated that she had a novel homozygous nonsense mutation, c.2845C > T, p.Gln949*, in exon 18 of CCDC40 and a heterozygotic mutation, c.73G > A, p.Ala25Thr, in exon 1 of DNAH11. She was diagnosed as Kartagener’s syndrome with pulmonary hypertension. Her symptoms improved significantly by treatment of antibiotics, expectorant drugs, bronchodilators, and oxygen therapy treatment. Our findings extend the mutation spectrum of CCDC40 gene related Kartagener’s syndrome, which is very important for gene diagnosis of the disease.

Item Type: Article
Subjects: QU Biochemistry > Genetics > QU 470 Genetic structures
QU Biochemistry > Genetics > QU 500 Genetic phenomena
WG Cardiovascular System > WG 20 Research (General)
Faculty: Department: Clinical Sciences & International Health > Clinical Sciences Department
Digital Object Identifer (DOI): https://doi.org/10.3389/fmed.2022.860684
SWORD Depositor: JISC Pubrouter
Depositing User: JISC Pubrouter
Date Deposited: 06 Jul 2022 13:34
Last Modified: 06 Jul 2022 13:34
URI: https://archive.lstmed.ac.uk/id/eprint/20270

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