On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition. (Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.)

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Date of Report September 8, 2016
Full Gene Name Coiled-coil domain containing 40
Location Chromosome 17 (17q25.3)
Ideogram: CCDC40 gene on chromosome 17

Click to enlarge ideogram in new window (generated using the NCBI Genome Decoration Page )
Function The CCDC40 gene codes for a protein that is necessary for motile cilia function (Becker-Heck et al., 2011 ).
Database Links GeneCards: GC17P080037 NCBI Gene: 55036 OMIM: 613799 UniProtKB/Swiss-Prot: Q4G0X9
Clinical Significance Changes in the CCDC40 gene have been found in individuals with primary ciliary dyskinesia.
A change in the CCDC40 gene was also identified in a UDN participant. Research is underway to see if this change is causing symptoms in this patient.

The participant, a 14 year old female with primary ciliary dyskinesia, was found to carry the following genetic change in the CCDC40 gene: c.334A>G/p.T112A.
Gene Inheritance Pattern Position Transcript DNA Change Protein Change
CCDC40 autosomal recessive chr17:78013851 NM_017950 c.334A>G p.T112A
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).

Some of her other features include:

  • Fainting (syncope)
  • Hay fever (allergic rhinitis)
  • 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
  • Inflammation of lung tissue lining (pleuritis)
  • Lung collapse (atelectasis, spontaneous pneumothorax)
  • Increased body weight
  • Mild scoliosis
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