WELCOME TO TRIM8 SYNDROME GROUP
information research treatment community
ABOUT US
Who we are
We are a patient led group seeking to establish a centralized information source and forum for TRIM8 syndrome patients and their families.
ABOUT TRIM8 SYNDROME
TRIM8 syndrome is a recently identified genetic disorder which is caused by mutations in the TRIM8 gene. This rare disorder is generally characterized by early-childhood onset epilepsy, motor and developmental delay, speech apraxia and nephrotic syndrome.
HELPFUL RESOURCES
Articles, Documents & Links
TRIM8
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De Novo Truncating Mutation of TRIM8 Causes Early‐Onset Epileptic Encephalopathy, Annals of Human Genetics, 27 June 2016, https://doi.org/10.1111/ahg.12157
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Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations,
23 September 2018, American Journal of Medical Genetics
https://doi.org/10.1002/ajmg.a.40357
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De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis, American Journal of Human Genetics (AJHG) vol 108, issue 2, p357-367, February 04, 2021 https://doi.org/10.1016/j.ajhg.2021.01.008
Related Research of Potential Interest
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Kidney Organoids in Translational Medicine: Disease Modeling and Regenerative Medicine, January 2020, Dev Dyn., https://doi.org/10.1002/dvdy.22
Resources from International Organizations
Apraxia of Speech: https://www.apraxia-kids.org/about-apraxia-kids/
Epilepsy: http://www.purpleday.org/epilepsy-resources
Kidney Disease: https://nephcure.org/livingwithkidneydisease/what-is-kidney-disease-2/