TY - JOUR T1 - A Novel Mutation in Primary Ciliary Dyskinesia: c. 2511dupC p.(Thr838Hisfs*15) JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.congress-2020.3526 VL - 56 IS - suppl 64 SP - 3526 AU - Tuğba Şişmanlar Eyuboglu AU - Fatma Kurt Colak AU - Tugba Ramaslı Gursoy AU - Ayse Tana Aslan Y1 - 2020/09/07 UR - http://erj.ersjournals.com/content/56/suppl_64/3526.abstract N2 - Objective: Primary ciliary dyskinesia (PCD) is an inherited, chronic respiratory disease with defective mucociliary clearance. There is no gold standart diagnostic test for PCD. Up-to-date 43 different genes described as related with PCD however only 65-70% of patients could be diagnosed with genetic analysis. We reported two siblings diagnosed as PCD with a novel mutation.Case 1: Thirteen year-old, girl patient had chronic rhinits and wet cough after the birth. She had recurrent pneumonia. Nasal polip was present in physical examination. His brother had situs anomaly. Heterozygous DNAH5 (c.5563dupA p.(Ile1855Asnfs*6) mutation and a novel heterozygous c.2511dupC p.(Thr838Hisfs*15) mutation were detected in genetic analysis.Case 2: Six year-old male patient had chronic rhinitis after the birth and dextrocardia was detected in neonatal period. After the PCD diagnosis of her sister he was evaluated and atelectasis was present on chest X-ray. The same mutations with his sister were detected. Sanger confirmation and family segregation studies were performed for both patients and the mutations were found to be compound heterozygous.Method: PCD has different clinical findings. All findings that may be associated with PCD should be questioned in pateints and also their families. However, c.5563dupA is a known mutation in PCD patients, c.2511dupC mutation is a novel mutation and was not reported before. Mutation analysis is important in terms of genetic counseling, determining the genotype phenotype relationship and potential new drugs that may be developed in the future.FootnotesCite this article as: European Respiratory Journal 2020; 56: Suppl. 64, 3526.This abstract was presented at the 2020 ERS International Congress, in session “Respiratory viruses in the "pre COVID-19" era”.This is an ERS International Congress abstract. No full-text version is available. Further material to accompany this abstract may be available at www.ers-education.org (ERS member access only). ER -