Journal Basic Info

  • Impact Factor: 1.809**
  • H-Index: 6
  • ISSN: 2474-1655
  • DOI: 10.25107/2474-1655
**Impact Factor calculated based on Google Scholar Citations. Please contact us for any more details.

Major Scope

  •  Trauma
  •  Child Birth
  •  Inflammation
  •  Hepatitis
  •  Gastric Cancer
  •  ENT
  •  Pediatrics
  •  Nursing


Citation: Ann Clin Case Rep. 2023;8(1):2505.DOI: 10.25107/2474-1655.2505

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 

 PDF  Full Text Case Report | Open Access


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


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.

Search Our Journal

Journal Indexed In

Articles in PubMed

Does Autoimmunity have a Role in Myoclonic Astatic Epilepsy? A Case Report of Voltage Gated Potassium Channel Mediated Seizures
 PubMed  PMC  PDF  Full Text
Tocotrienols: Exciting Biological and Pharmacological Properties of Tocotrienols and Naturally Occurring Compounds, Part II
 PubMed  PMC  PDF  Full Text
View More...

Articles with Grants

Difficult Airway and Anesthetic Management in a “3-On” Ankylosing Spondylitis Patient
 Abstract  PDF  Full Text
Pulmonary Sclerosing Hemangioma with Lymph Node Metastasis: A Case Report
 Abstract  PDF  Full Text
View More...