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.)
|Date of Report||September 8, 2016|
|Full Gene Name||Dynein axonemal heavy chain 11|
|Location|| Chromosome 7 (7p15.3)
Click to enlarge ideogram in new window (generated using the NCBI Genome Decoration Page )
|Function||The DNAH11 gene codes for a protein that is thought to be involved in the movement of cilia and flagella (Chapelin et al., 1997 ).|
|Database Links||GeneCards: GC07P021582 NCBI Gene: 8701 OMIM: 603339 UniProtKB/Swiss-Prot: Q96DT5|
|Clinical Significance|| 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.
|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|
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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