On this page, you will find information about a genetic change that was identified in UDN participants. 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

Aug 22, 2017

Full Name

zinc finger DHHC-type containing 9

Chromosome X (Xq26.1)


The ZDHHC9 gene encodes an integral membrane protein highly expressed in the kidney, skeletal muscle, brain, lung, and liver (Swarthout et al, 2005).

Database Links

GeneCards: GC0XM129803

Genetics Home Reference: ZDHHC9 gene

NCBI Gene: 51114

OMIM: 300646

UniProtKB/Swiss-Prot: Q9Y397

Clinical Significance

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.

Inheritance Pattern X-linked
Position chrX:128957774
Transcript NM_00100822
DNA Change c.368C>T
Protein Change 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:

  • Global developmental delay
  • Dystonia
  • Abnormal crease on the palm of the hand (bridged palmar crease)
Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!