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Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome.

ABSTRACT: Kartagener syndrome (KS), a subtype of primary ciliary dyskinesia (PCD), is characterized by bronchiectasis, chronic sinusitis, male infertility and situs inversus. KS is a genetically heterogeneous disease that is inherited in an autosomal recessive form; however, X-linked inheritance has also been reported. As of this writing [late 2020], at least 34 loci, most of which have known genes, have been reported in the literature as associating with KS. In the present study, we identified a frame shift mutation, c.167delG (p.G56Dfs*26), in the coiled-coil domain containing 151 gene (CCDC151) responsible for KS in a Han-Chinese family. To our knowledge, this is the first report of a CCDC151 c.167delG mutation in the KS patient. These findings may expand the CCDC151 mutation spectrum of KS, and contribute to future genetic counseling and gene-targeted therapy for this disease.

SUBMITTER: Deng S

PROVIDER: S-EPMC7298131 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

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Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome.

Deng Sheng S Wu Shan S Xia Hong H Xiong Wei W Deng Xiong X Liao Junxi J Deng Hao H Yuan Lamei L

Bioscience reports 20200601 6

Kartagener syndrome (KS), a subtype of primary ciliary dyskinesia (PCD), is characterized by bronchiectasis, chronic sinusitis, male infertility and situs inversus. KS is a genetically heterogeneous disease that is inherited in an autosomal recessive form; however, X-linked inheritance has also been reported. As of this writing [late 2020], at least 34 loci, most of which have known genes, have been reported in the literature as associating with KS. In the present study, we identified a frame sh ...[more]

PMID: 32490514

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