Mutations in the CFAP74 Gene Explains the Variation of the Phenotype in a Family Quartet with PCD

Öz E1*, Sever EA1, Eralp EE2, Karadağ B2, Gökdemir Y2 and Sezerman OU1

1Department of Biostatistics and Bioinformatics, Institute of Health Sciences, Acibadem Mehmet Ali Aydınlar University, Turkey
2Division of Pediatric Pulmonology, Marmara University Hospital, Turkey

^*Correspondance to: Elif Öz 

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Abstract:

Primary Ciliary Dyskinesia (PCD) is a rare genetic disease in which patients suer from recurrent airway infections and other pulmonary conditions as well as other cilia-related problems such as sterility and situs inversus. ere are many genes that are associated with PCD and these genes are responsible for either the structure or the function of the cilia. In this study, a family quartet consisting of unaected parents and their ospring with PCD was examined. One of the children shows more severe symptoms of PCD, while the other child has a milder phenotype. Two variants in the CFAP74 gene were identied as a compound heterozygous state in the child with severe PCD and one of these mutations is found in the child with milder PCD. Our results demonstrate the importance of carrying another causal variant on the severity of the phenotype

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Cite the Article:

Öz E, Sever EA, Eralp EE, Karadağ B, Gökdemir Y, Sezerman OU. Mutations in the CFAP74 Gene Explains the Variation of the Phenotype in a Family Quartet with PCD. Ann Clin Case Rep. 2023; 8: 2505.