The National Center for Advancing Translational Sciences describes 12q14 microdeletion syndrome as a genetic syndrome caused by a missing piece of chromosome 12. The signs and symptoms depend on the size of the missing piece and the genes involved, but generally include growth delay, short stature and feeding difficulties. When this syndrome is inherited, it is passed on in a dominant pattern. It can be diagnosed through a genetic test, either a chromosomal microarray or whole exome sequencing. Orphanet mentions that the deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in ostepoikilosis, which is a rare inherited condition that causes areas of bone tissue (more often than not near the joints), to become dense and round during childhood, though stop developing after the skeleton reaches its adult state. Nature Journal confirms that it can occur with or without the LEMD3 gene deletion.
The prevalence of this disorder currently stands at less than one out of one million or 0.015%, has only been described in four unrelated patients, and whether or not it is inherited is currently unknown. A common method of detection for microdeletions is the fluorescence in situ hybridization (FISH), a “molecular cytogenetic technique based on fluorescently labeled DNA probes specific for a chromosomal region of interest.”
There is still a lot of research lacking in our understanding of this disorder as well as how to help those who experience it. It doesn’t matter how small the community is. One person alone deserves research and aid, so why not help these patients? To learn more, visit the links in the episode transcription and do what you can to help organizations working towards solutions through volunteering, donating, and whatever other ways you’ve got.
Rare Disease Daily aims to raise awareness for the community of approximately 30 million US citizens who experience either one or several of the over 7,000 varying rare disorders and diseases, including myself. We desperately need your resources and help, for the sake of our basic human rights and for access equality, as well as to encourage every listener to investigate whether or not they are rare. Any language originally gendered will be neutralized to the best of my ability.
This was Rare Disease Daily #3, 12q14 Microdeletion Syndrome. I’m yannick-robin. Thank you for your time.
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