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Headshot of Participant 009Female, age 14 with primary ciliary dyskinesia

Date of Report September 8, 2016
Description
The patient was born early at 35 weeks. During the first few months of her life, she had multiple episodes of “turning blue” (cyanotic episodes) and was diagnosed with many upper respiratory and ear infections. She also had bronchitis and pneumonia several times. Around age 6, she started to complain of difficulty breathing.
Over time, the patient has continued to suffer from frequent infections, chronic lung disease, and asthma. At age 12, a buildup of fluid between the tissues that line the lungs and chest (pleural effusion) was noticed on an X-ray. The patient also has acid reflux disease (gastroesophageal reflux).
Symptoms/Signs
  • Chronic sinus infections (sinusitis)
  • Exercise-induced asthma
  • Fainting (syncope)
  • Hay fever (allergic rhinitis)
  • Chest cold (acute bronchitis)
  • Recurrent pneumonia
  • Low oxygen concentration in blood (hypoxemia)
  • Dyslexia
  • Headache
  • Increased head size (macrocephaly)
  • Ringing in ears (tinnitus)
  • Recurrent ear infections (otitis media)
  • Nose bleeds (epistaxis)
  • High palate
  • Small uvula
  • Acne
  • Decreased lung (pulmonary) function
  • Chronic lung disease
  • Difficulty breathing (dyspnea)
  • Chronic cough
  • Chest pain
  • Buildup of fluid between tissues that line lungs and chest (pleural effusion)
  • Inflammation of lung tissue lining (pleuritis)
  • Lung collapse (atelectasis, spontaneous pneumothorax)
  • Acid reflux disease (gastroesophageal reflux)
  • Increased body weight
  • Mild scoliosis
Current treatments
  • Albuterol, Flovent, Hypertonic Saline Nebulized Solution, Chest Vest
  • Physiotherapy – asthma and airway clearance
Prior treatments
  • Tonsillectomy, adenoidectomy – upper respiratory infections
Previously Considered Diagnoses
  • Cystic fibrosis
  • Autoimmune deficiency
Genetic Variants of Interest Clinicians and researchers are investigating the following genetic changes to see if they are causing the patient’s symptoms:
Gene Inheritance Pattern Position Transcript DNA Change Protein Change
DNAH11* autosomal recessive chr7:21750214 & chr7:21639703 NM_001277115 c.6727C>T & c.2966G>A p.R2243X & p.R989Q
CCDC40* autosomal recessive chr17:78013851 NM_017950 c.334A>G p.T112A
Contact
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Email: UDN@hms.harvard.edu
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