Champ 1 Mutation

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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:

champ1genelogo

https://m.facebook.com/groups/881644925222221?ref=bookmark

“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)

CHAMP1 AJHG Hempel et al 2015

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Find out more information at: Champ1Gene.com

October 14th, 2017:

As a parent of a “Champer” (as some of us lovingly call them),  I am trying to learn more about Champ 1 Gene mutation.  Follow the link to:

OMIM® and Online Mendelian Inheritance in Man® 

to read more.  But that site is mostly for medical professionals.  For me this has been a crash course in genetics and biology.  I never paid much attention to these subjects before.  I am learning!

What I thought was interesting was the alternative names for the gene:

CAMP; CHAMP
ZINC FINGER PROTEIN 828; ZNF828
CHROMOSOME 13 OPEN READING FRAME 8; C13ORF8
KIAA1802

I thought ZNF828 was interesting for some reason. Lol.  I guess I liked the way that sounded.

Feel free to contact me on my blog and I will try to respond in a timely manner. Thank you.  I will update this as I hopefully learn more…

Champ Friends (Websites of Fellow Champs!):

Raising A Champ!

CHAMP1 Gene Mutation Support Group

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13 thoughts on “Champ 1 Mutation

  1. Hi Esther. My son also has this diagnosis. Denovo mutation of the CHAMP1 gene. We are involved in the DDD study in the UK. I am very keen to make contact with other families. Would you be interested in talking? My son is 9 and we have just recently been given this diagnosis. Kind Regards Stacey

    Liked by 1 person

    1. Hi Stacey. My daughter has this diagnosis too. We took part in the DDD study and after 9 years of not having a diagnosis finally got this one. We are also very keen to make contact with other families. I would be interested in talking to you if you like. My daughter is 11 on 21 April 2016. Best wishes, Ceri

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  2. Hi Esther,

    My daughter has also been diagnosed with this mutation. We waited 9 years for it and after participating in the DDD study we finally received the diagnosis. I’ve only heard of one other child in the UK that had the same mutation. We are also very keen to make contact with other families. Best wishes, Ceri

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  3. Hello ladies! My daughter also has this condition. She is 7 years old and was just recently diagnosed. I would really like to make contact with other families in this same situation! Would any of you be willing to do that?

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  4. We just got the news today that our son has the Champ1, Chromosome 13 mutation. He is 16 years old. I don’t know if he’s the oldest kid to be diagnosed, but very excited to find there are others trying to connect. I’m eager to share information.

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  5. Hi Esther,
    My duoghter also has the same mutation. She is 6 years old and just received her diagnosis last week.
    We are eager to contact other families in the same situation, to share information and also to learn as much as possible.

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  6. Hi Esther lovely you blog! I’m the mother of Bento with the same aberration of Champ1. Do you use your art experience as professional ? An i like writings, very poetic. I love oil art painting as a relaxation, but as you know, where is time to do? So maybe we could arrange few text /reports which you can write on the website ?

    kindly regards!
    Serpil

    Liked by 1 person

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