Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction

Pereira, Rute; Oliveira, Márcia E.; Santos, Rosário; Oliveira, Elsa; Barbosa, Telma; Santos, Tiago; Gonçalves, Paulo Bayard Dias; Ferráz, Luís; Pinto, Soraia; Barros, Alberto; Oliveira, Jorge; Sousa, Mário

doi:10.1007/s10815-019-01509-7

Cited by 24 publications

(25 citation statements)

References 39 publications

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“…Male infertility has also been detected in PCD patients with mutations in axonemal dynein assembly factors LRRC6 (leucine-rich repeat containing 6), ZMYND10 (zinc finger MYND-type containing 10) and cilia and flagella-associated protein 300 (CFAP300). PCD with a lack of dynein arms in both the cilia and sperm is reported for LRRC6, ZMYND10, CFAP300 and axonemal dynein complex gene CCDC103 (coiled-coil domain containing 103) [16,44,54,65,97,99,100]. However, for CCDC103 mutations variable male fertility phenotype has been reported; one patient showed a lack of DA and DRC comparable to the motile cilia phenotype, but the other was fertile without DA loss [100].…”

Section: The Effect Of Pcd Mutations In Dynein Arm Assembly Genes Andmentioning

confidence: 99%

Sperm defects in primary ciliary dyskinesia and related causes of male infertility

Sironen

Shoemark

Patel

et al. 2019

Cell. Mol. Life Sci.

186

134

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The core axoneme structure of both the motile cilium and sperm tail has the same ultrastructural 9 + 2 microtubular arrangement. Thus, it can be expected that genetic defects in motile cilia also have an effect on sperm tail formation. However, recent studies in human patients, animal models and model organisms have indicated that there are differences in components of specific structures within the cilia and sperm tail axonemes. Primary ciliary dyskinesia (PCD) is a genetic disease with symptoms caused by malfunction of motile cilia such as chronic nasal discharge, ear, nose and chest infections and pulmonary disease (bronchiectasis). Half of the patients also have situs inversus and in many cases male infertility has been reported. PCD genes have a role in motile cilia biogenesis, structure and function. To date mutations in over 40 genes have been identified cause PCD, but the exact effect of these mutations on spermatogenesis is poorly understood. Furthermore, mutations in several additional axonemal genes have recently been identified to cause a sperm-specific phenotype, termed multiple morphological abnormalities of the sperm flagella (MMAF). In this review, we discuss the association of PCD genes and other axonemal genes with male infertility, drawing particular attention to possible differences between their functions in motile cilia and sperm tails.

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Section: The Effect Of Pcd Mutations In Dynein Arm Assembly Genes Andmentioning

confidence: 99%

Sperm defects in primary ciliary dyskinesia and related causes of male infertility

Sironen

Shoemark

Patel

et al. 2019

Cell. Mol. Life Sci.

186

134

View full text Add to dashboard Cite

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“…Most of the known KS-associated genes are involved in specific ultrastructural defects of cilia (Table 2). TEM and HSVM are useful tests for pathological diagnosis based on structural and functional abnormality of cilia [34][35][36]. It is estimated that 70-80% of PCD patients have ciliary ODA deficiency or loss, with about a quarter of that also containing IDA loss [5,37,38].…”

Section: Discussionmentioning

confidence: 99%

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

Deng

Hong

et al. 2020

Bioscience Reports

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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.

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“…Although Kartagener syndrome was formerly known as a classical phenotype of PCD with the Kartagener triad, namely, situs inversus, CRS, and bronchiectasis, situs inversus is observed in approximately half of patients with PCD [ 1 , 8 ]. However, the diagnosis of PCD is often delayed or missed – even in children who showed the characteristic clinical courses of PCD – due in part to the limitation of the available diagnostic examination, the technical expertise required for an accurate diagnosis, and a lack of physician knowledge [ 3 , 9 – 11 ]. Because there are diverse clinical presentations of PCD, physicians should also consider a differential diagnosis, such as cystic fibrosis, asthma, allergic rhinitis, gastroesophageal reflux disease and aspiration, immunodeficiency, and interstitial lung disease [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis

et al. 2020

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Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction

Cited by 24 publications

References 39 publications

Sperm defects in primary ciliary dyskinesia and related causes of male infertility

Sperm defects in primary ciliary dyskinesia and related causes of male infertility

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

Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis

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