Aug 22, 2017
zinc finger DHHC-type containing 9
The ZDHHC9 gene encodes an integral membrane protein highly expressed in the kidney, skeletal muscle, brain, lung, and liver (Swarthout et al, 2005).
A change in the ZDHHC9 gene was identified in two UDN participants. Research is underway to see if this change is causing symptoms in these patients.
The participants, two male siblings ages 4 and 5 with developmental delay and abnormal MRI findings (T2 hyperintensity of caudate nuclei and putamen bilaterally), were found to carry the following genetic change in the ZDHHC9 gene: c.368C>T / p.Pro123Leu.
At 6 months, the older brother was not sitting or rolling and was found to have low muscle tone (hypotonia). Over time, his hypotonia has become more noticeable and currently he is unable to stand or walk. He has also developed involuntary muscle contractions (dystonia) and problems with coordination (ataxia). The patient does not communicate verbally, but uses an assistive communication device. He is very social and engaged.
His younger brother is similarly affected, but has not developed dystonia. In addition to the symptoms above, the patients also have abnormal MRI findings (T2 hyperintensity of caudate nuclei and putamen bilaterally).
Some of their other features include:
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