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Participant 009


CCDC40 & DNAH11
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Female, age 14, with primary ciliary dyskinesia caused by changes in the DNAH11 gene

Date of Report

Sep 08, 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
Considered treatments
Previously Considered Diagnoses
  • Cystic fibrosis
  • Autoimmune deficiency
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic changes to be causing the participant’s symptoms:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
DNAH11
Autosomal recessive
chr7:g.21750214C>T & g.21639703G>A
NM_001277115.1
c.6727C>T & c.2966G>A
p.Arg2243Ter & p.Arg989Gln
Contact

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