On this page, you will find information about 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.)
Female, age 14 with primary ciliary dyskinesia
|Date of Report||September 8, 2016|
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).
|Previously Considered Diagnoses||
|Genetic Variants of Interest||Clinicians and researchers are investigating the following genetic changes to see if they are causing the patient’s symptoms:|
|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|
Do you think this profile matches someone you know? Contact us via email or phone.