Condition AZ: c

Also known as: CHAMP1 Disorder; Chromosome Alignment-Maintaining Phosphoprotein 1

Background

CHAMP1 is an ultra-rare genetic neurodevelopmental condition (present at birth) that is caused by mutations or deletions of the CHAMP1 gene on chromosome 13. Individuals with CHAMP1 have intellectual disabilities, developmental delays, facial dysmorphisms, low muscle tone, hypermobility and other anomalies.

In this article

What are the symptoms of CHAMP1?

Depending on the mutation type, CHAMP1 manifests differently along the spectrum of symptoms and severity. In most cases, features of CHAMP1 appear early in life and can evolve with age.


Individuals with CHAMP1 display typical facial features, including:

A number of other health problems are more common in those with CHAMP1, such as seizures, gastroesophageal reflux, cyclical vomiting syndrome hypotonia (low muscle tone), hypermobility, ataxia (lack of coordination), strabismus (crossed eyes), hyperopia (farsightedness), and recurrent respiratory infections. Children with CHAMP1 have significant developmental delays, have varying levels of intellectual disability. They also have speech delays, limited or absence speech. They have difficulties with fine and gross motor skills. They may also show autistic-like behaviours, such as stereotypy (repetitive movements) and social disinhibition.

What are the causes of CHAMP1?

CHAMP1 disorders are caused by nonsense and missense mutations to the CHAMP1 gene or chromosomal deletions to 13q34 that include the CHAMP1 Allele.

The CHAMP1 gene encodes a protein that is involved in regulating gene expression and cell division. The mutations or deletions result in a loss of function of the CHAMP1 protein, which affects the development and function of the brain and other organs.

Nonsense mutations and chromosomal deletions are believed to be haploinsufficiency, meaning that the remaining functional copy of the gene is not adequate to produce the required level of CHAMP1 protein to preserve normal function.

How is CHAMP1 diagnosed?

Clinical diagnosis is based on a combination of features that are characteristic of CHAMP1 disorders, such as the facial appearance, intellectual disability, developmental delay, and other anomalies. CHAMP1 disorders are confirmed by a taking blood or saliva, which is then tested to see if the relevant mutation or deletion is present. Molecular genetic testing, such as fluorescent in situ hybridisation (FISH) or microarray comparative hybridisation (array-CGH) and whole exome sequencing (WES) can detect the mutations in the CHAMP1 gene.

How is CHAMP1 treated?

There is no specific treatment or cure for CHAMP1. Management of the condition involves a multidisciplinary team of specialists who can provide medical, educational, and social support. The treatment is tailored to the individual’s needs and may include:

• Medication for seizures & gastroesophageal reflux
• Speech therapy, occupational therapy, physiotherapy, and special education to help with communication, motor skills, and learning
• Eye glasses or surgery for strabismus and hyperopia
• Behavioural therapy or medication for autism spectrum disorder
• Antibiotics or immunoglobulin therapy for recurrent infections

Inheritance patterns and prenatal diagnosis of CHAMP1

Inheritance patterns
Most cases of CHAMP1 are De Novo and due to a new mutation or deletion occurring in the child.
All Nonsense mutations have been diagnosed as De novo. There are a few cases reported as hereditary with parents carrying missense mutations.

The chance of having another child with CHAMP1 is very low, unless the parents are carriers of a balanced chromosomal rearrangement involving the CHAMP1 gene. Children of affected individuals have a 50 per cent chance of inheriting CHAMP1, as the condition is autosomal dominant, which means that only one copy of the mutated or deleted gene is enough to cause the disorder.

Prenatal diagnosis
For couples who have a child with CHAMP1 or are carriers of a chromosomal rearrangement involving the CHAMP1 gene, prenatal diagnosis by FISH testing of chorionic villus biopsy or amniocentesis is possible. This can detect the presence or absence of the mutation or deletion in the CHAMP1 gene in the foetus.

Support for people affected by CHAMP1 and their families

If your child is affected by a medical condition or disability, we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. We also offer emotional support for parents via our Listening Ear service.

We have a range of parent guides on aspects of caring for a disabled child in our resource library. You may also find our Early Years Support useful, which contains links to parent carer workshops and help for families going through the diagnosis process.

We’ve listed a support group below and you can also meet other parents online in our closed Facebook group.

CHAMP1 UK

Tel: 07440066267
Email:  hello@CHAMP1.UK
Website: www.CHAMP1.UK
WhatsApp: www.CHAMP1.UK/WhatsApp 

CHAMP1 UK is a charity supporting individuals and families affected by CHAMP1 disorders. They also offer a CHAMP1 Private Family Support Group: https://www.facebook.com/groups/881644925222221

Group details added April 2024.

Credits

Written March 2024 by Scott Hutchings of CHAMP1 UK & Jeffrey D’Angelo of The CHAMP1 Research Foundation.

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Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information  provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional.