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 of participants who give explicit consent will appear here.)
|Date of Report||November 21, 2016|
|Full Gene Name||WNK lysine deficient protein kinase 1|
|Location|| Chromosome 12 (12p13.33)
Click to enlarge ideogram in new window (generated using the NCBI Genome Decoration Page )
|Function||The WNK1 gene codes for a serine/threonine protein kinase (Xu et al., 2000 ).|
|Database Links||GeneCards: GC01M11177 NCBI Gene: 65125 OMIM: 605232 UniProtKB/Swiss-Prot: Q9H4A3|
|Clinical Significance|| Changes in the WNK1 gene have been found in individuals with hereditary sensory and autonomic neuropathy II and pseudohypoaldosteronism type IIC.
A change in the WNK1 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 49-year-old female with muscle weakness, balance problems, clumsiness, muscle twitching (fasiculations) and cramps, abnormal heart rhythm (second-degree AV block), episodes of high potassium (hyperkalemia), restrictive lung disease, double vision (diplopia), and seizures was found to carry the following genetic change in the WNK1 gene: c.2336C>T/p.A779V.
|Gene||Inheritance Pattern||Position||Transcript||DNA Change||Protein Change|
|WNK1*||Autosomal recessive||chr12: 987490||NM_018979||c.2336C>T||p.A779V|
*Patient only has one variant
The patient was in excellent health until age 45 when she started to notice muscle weakness and difficulty keeping up while playing sports. Her muscle weakness has continued to worsen and she now has balance problems, muscle twitching (fasciculations) and cramps, and difficulty with coordination. She has significant respiratory muscle weakness and requires nocturnal bi-level ventilation (BiPAP).
The patient has double vision (diplopia on lateral gaze) with weakness (opthalmoplegia) and started having seizures (left temporal lobe focus). These seizures are now controlled with carbamazepine treatment and a pacemaker.
The patient also has an abnormal heart rhythm (second-degree AV block) and had a pacemaker implanted at age 48. Based on recent imaging findings, she has probable early heart disease (cardiomyopathy).
She has been diagnosed with a potassium channel disease (channelopathy) with impaired renal excretion, and has had several episodes of extreme high potassium (hyperkalemia) with dramatic ECG changes, respiratory failure, and very low serum phosphate.
The patient also has stage 3 thyroid cancer (multifocal papillary).
Some of her other features include:
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