What is Champ 1 Gene Mutation?
“De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features” (Tanaka et al 2015 CHAMP1) Champ 1 gene is located on chromosome 13q34.
Basically, this gene mutation causes developmental delay. Here are some additional characteristics they may have: Hypotonia, Microcephaly, severe speech impairment, short statue, may have seizures, congenital abnormalities. But the primary characteristics are intellectual disability and severe speech impairment. (And some say “inappropriate laughter”)
De Novo – anew
Pathogenic– causing or capable of causing disease
Papers written on Champ 1 are the following: Tanaka et al 2015 CHAMP1, CHAMP1 AJHG Hempel et al 2015, CHAMP1_Isidor_2016
Where do I find support for families with Champ 1 Gene mutation?
Click link or logo below for Facebook support group:
“Connecting families of those with the Champ 1 gene mutation. Supporting families touched by champ 1 gene mutation. This is a closed group. It is requested that immediate families join the group, geneticists, and those who are in close relation to the families. We don’t want to exclude anyone; however the purpose of the group is not a casual friendship Facebook experience but a specific support group.”
My daughter was diagnosed with Champ 1 Mutation January 2015, after 12 years of searching for a diagnosis. Our community of Champs seems to be growing with over 20 cases worldwide.
“De Novo Mutations in CHAMP1 Cause
Intellectual Disability with Severe Speech Impairment” (See Below.)
What I would like to point out for those to whom this applies, a quote from the report in the last paragraph that may help some get their diagnosis.
“the genetic analysis of CHAMP1 should be considered in individuals with unclassified, non-syndromic or mild dysmorphic forms of ID/GDD, especially if muscular hypo- tonia and severe speech delay are present and PWS and AS testing have given normal results.”
* PWS (Prader-Willi Syndrome) AS (Angelman Syndrome)
*ID/GDD (Intellectual Delay and Global Development Delay)
Find out more information at: Champ1Gene.com