Sep 08, 2016
Coiled-coil domain containing 40
The CCDC40 gene codes for a protein that is necessary for motile cilia function (Becker-Heck et al., 2011).
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.
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:
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