Sep 08, 2016
Dynein axonemal heavy chain 11
The DNAH11 gene codes for a protein that is thought to be involved in the movement of cilia and flagella (Chapelin et al., 1997).
Changes in the DNAH11 gene have been found in individuals with primary ciliary dyskinesia.
Changes in the DNAH11 gene were also identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this patient.
The participant, a 14 year old female with primary ciliary dyskinesia, was found to carry the following genetic changes in the DNAH11 gene: c.6727C>T/p.R2243X & c.2966G>A/p.R989Q.
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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