Non Profit Organisation Specialising in SETD 5 Syndrome.
SETD 5 is a Rare Spectrum Disease and Syndrome within the human brain's Critical Region, causing Intellectual Disability (ID) and associated Biological and Physiological disabilities.
Our Non-Profit Organisation, researches, advises, advocates and supports those have been diagnosed with SETD 5.
Since 2013, The director of SETD 5 has worked tirelessly to establish a global support organisation. Connecting those diagnosed or those researching SETD 5 to forge relationships with one another, to share genetic, clinical, medical and educational support pathways.
As SETD 5 is extremely rare, the growth output has been slow, due to the very nature of the syndrome, however now that more research has been published, it is very likely that the Organisation will grow and evolve as more individuals will be diagnosed with this syndrome soon. It is appearing that SETD 5 is one of the main underpinning factors for ASD / Autism.
SETD 5 is a Rare Spectrum Disease and Syndrome within the human brain's Critical Region, causing Intellectual Disability (ID) and associated Biological and Physiological disabilities. Those who are have been diagnosed with SETD 5 have variable presentation and a wide spectrum of severity. They may present with the set phenotypes or with a common paediatric issue. SETD 5 can easily be missed even amongst the specialists, if genetic testing is not offered. So, without SETD 5’s specialist detailed guides, those specialists who advise and care for undiagnosed patients can be missed off from genetic testing lists.
SETD 5 - A (Homo sapiens) SET domain-containing protein 5; Probable transcriptional regulator that acts via the formation of large multiprotein complexes that modify and/or remodel the chromatin. Acts as a regulator of histone acetylation during gene transcription.
SETD 5 is De Novo Loss-of-Function (Self Inherent) Genetic Mutations Encoding a Methyltransferase (neuro protein) in a 3p25 Microdeletion.
SETD 5 mutation is found in both X (Female) and Y (Male). SETD 5 is an exceptionally rare abnormality, at time of publication (April 2014) only 6 human individuals were diagnosed, that number has currently stabilised at 152 individuals worldwide. (March 2019)
SETD 5 is a Mendelian (single) cause of intellectual disability (ID).
As knowledge of rare variants in the normal population increases, there is a need to establish increasingly stringent criteria to evaluate whether a disease-causing variant has been identified to ensure the accurate translation of new knowledge into safe clinical practice.
SETD5 is a methyltransferase (enzyme) based on sequence homology to other SET domain proteins. It is highly conserved throughout mammalian species, suggesting that it is functionally important, although little is known yet of its specific role.
SETD5 is ubiquitously expressed, and especially high levels of SETD5 expression have been noted in the brain.
SETD5 is a relatively frequent cause of ID and occurs as a rare de novo mutational event.
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