CHAMP1-associated intellectual disability syndrome

Other names| Autosomal dominant intellectual disability 40
Specialty| Medical genetics, pediatrics
Symptoms| Developmental delays, intellectual disability, and other multi-systemic symptoms
Usual onset| Birth
Duration| Lifelong
Causes| Genetic mutation in CHAMP1
Prevention| None
Prognosis| With treatment, medium to good; without treatment, medium to poor
Frequency| Rare; only 36 cases have been described
Deaths| -

CHAMP1-associated intellectual disability syndrome, also known as autosomal dominant intellectual disability type 40, is a rare genetic disorder characterized by intellectual disabilities, developmental delays, facial dysmorphisms, and other anomalies.[1]

## Contents

* 1 Signs and symptoms
* 2 Causes
* 3 Epidemiology
* 4 References

## Signs and symptoms

Individuals with the disorder often show the following signs and symptoms:[2][3]

* Intellectual disabilities
* Speech delays
* Epicanthic fold
* Drooping of the lower lip
* Feeding difficulties
* Hypotonia of the face
* Ataxia
* Hyperopia
* High palate
* Widespread developmental delays
* Gastroesophageal reflux
* Widespread hypotonia
* Decreased sense of pain
* Joint hypermobility
* Long face
* Constantly open mouth
* Prognathism (pointy chin)
* High occurrence of respiratory tract infections
* Short philtrum
* Stereotypy
* Tented upper lip vermilion
* Upslanted palpebral fissures
* Strabismus
* Autism/autistic-like behaviour

## Causes

As its name suggests, the condition is caused by mutations in the CHAMP1 gene, in chromosome 13q34. These mutations are most often missense or nonsense mutations.[1] They are usually sporadic, meaning the condition is not inherited from the parents. However, if people with the disorder were to reproduce, they would have a 1 in 2 chance of giving their children a copy of the gene, because the disorder is autosomal dominant, which means that only one copy of a mutated gene (whether inherited or from a spontaneous error in cell division) is needed to pass it on to a child.

## Epidemiology

According to OMIM,[4] only 36 cases have been described in medical literature.[5][6][7][8][9]

## References

1. ↑ 1.0 1.1 Asakura, Yuta; Osaka, Hitoshi; Aoi, Hiromi; Mizuguchi, Takeshi; Matsumoto, Naomichi; Yamagata, Takanori (2021-08-17). "Intellectual disability and microcephaly associated with a novel CHAMP1 mutation" (in en). Human Genome Variation 8 (1): 34. doi:10.1038/s41439-021-00165-7. ISSN 2054-345X. PMID 34404773. PMC 8371100. https://www.researchgate.net/publication/353953610.
2. ↑ "Autosomal dominant intellectual disability 40 - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/13539/autosomal-dominant-intellectual-disability-40.
3. ↑ "Gene: CHAMP1 -" (in en-US). https://gene.sfari.org/database/human-gene/CHAMP1.
4. ↑ "OMIM Entry - # 616579 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD" (in en-us). https://omim.org/entry/616579.
5. ↑ Deciphering Developmental Disorders Study (2015-03-12). "Large-scale discovery of novel genetic causes of developmental disorders". Nature 519 (7542): 223–228. doi:10.1038/nature14135. ISSN 1476-4687. PMID 25533962. Bibcode: 2015Natur.519..223T.
6. ↑ Hempel, Maja; Cremer, Kirsten; Ockeloen, Charlotte W.; Lichtenbelt, Klaske D.; Herkert, Johanna C.; Denecke, Jonas; Haack, Tobias B.; Zink, Alexander M. et al. (2015-09-03). "De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment". American Journal of Human Genetics 97 (3): 493–500. doi:10.1016/j.ajhg.2015.08.003. ISSN 1537-6605. PMID 26340335.
7. ↑ Isidor, Bertrand; Küry, Sébastien; Rosenfeld, Jill A.; Besnard, Thomas; Schmitt, Sébastien; Joss, Shelagh; Davies, Sally J.; Lebel, Robert Roger et al. (April 2016). "De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability". Human Mutation 37 (4): 354–358. doi:10.1002/humu.22952. ISSN 1098-1004. PMID 26751395.
8. ↑ Garrity, Madison; Kavus, Haluk; Rojas-Vasquez, Marta; Valenzuela, Irene; Larson, Austin; Reed, Sara; Bellus, Gary; Mignot, Cyril et al. (August 2021). "Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1". Cold Spring Harbor Molecular Case Studies 7 (4): a006092. doi:10.1101/mcs.a006092. ISSN 2373-2873. PMID 34021018.
9. ↑ Levy, Tess; Lerman, Bonnie; Halpern, Danielle; Frank, Yitzchak; Layton, Christina; Zweifach, Jessica; Siper, Paige M.; Buxbaum, Joseph D. et al. (2022-03-11). "CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms". Human Molecular Genetics 31 (15): 2582–2594. doi:10.1093/hmg/ddac018. ISSN 1460-2083. PMID 35271727.

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