Biology:CHAMP1
Mutations in the CHAMP1 gene are associated with a neurodevelopmental disorder characterized by intellectual disability and severe speech impairment.[1][2] This condition, often referred to as CHAMP1-related neurodevelopmental disorder, arises from a pathogenic variant in one of the two copies of the gene.[3] The majority of cases result from de novo mutations, meaning they are not inherited from the parents.[4]
Individuals with this disorder typically present with a range of symptoms, including global developmental delay, intellectual disability, and significant speech impairment.[5][6] Common behavioral issues include features consistent with autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD).[7] Other frequently reported conditions include feeding difficulties, vision problems, seizures, and hypotonia (low muscle tone).[5]
Diagnosis is confirmed through genetic testing. Management is supportive and tailored to the individual's symptoms, involving physical, occupational, and speech therapies, as well as educational support.[6]
References
- ↑ "De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment". Journal of Medical Genetics 52 (11): 758–762. November 2015. doi:10.1177/1545968315604395. PMID 26359341. PMC 4680190. https://research.champ1foundation.org/papers-details?recordId=recHpLapeZwMAKDaO.
- ↑ "De Novo Truncating Mutations in the Kinetore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability". The American Journal of Human Genetics 103 (4): 603–611. October 2018. doi:10.1016/j.ajhg.2018.08.011. PMID 30196985. PMC 6174321. https://research.champ1foundation.org/papers-details?recordId=recR3qpDJ6pXQkfsD.
- ↑ "CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories". Human Genetics 31 (21): 30836–30848. April 2024. doi:10.1007/s11356-024-33168-2. PMID 38622415. PMC 11096217. https://research.champ1foundation.org/papers-details?recordId=recBmJMxNd5N2rtGF.
- ↑ "De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features". Human Mutation 39 (12): 1903–1915. December 2018. doi:10.1002/humu.23652. PMID 30252159. PMC 6294708. https://research.champ1foundation.org/papers-details?recordId=recqzWE3eieFrUkw9.
- ↑ 5.0 5.1 "A disease conceptual model for CHAMP1-related disorder". Journal of Neurodevelopmental Disorders 15 (1): 19. May 2023. doi:10.1186/s12941-023-00586-y. PMID 37202758. PMC 10202970. https://research.champ1foundation.org/papers-details?recordId=recBvwhfNrm6pvvvU.
- ↑ 6.0 6.1 "CHAMP1-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature". Genes 14 (7): 7361–7374. July 2023. doi:10.3390/genes14071432. PMID 37489569. PMC 10381650. https://research.champ1foundation.org/papers-details?recordId=recCMpZQuECoVfAY2.
- ↑ "CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms". Human Molecular Genetics 31 (15): 2582–2594. July 2022. doi:10.1093/hmg/ddac018. PMID 35084013. PMC 9288764. https://research.champ1foundation.org/papers-details?recordId=recKgWNgt5ro53lnt.
External links
- CHAMP1 UK - Charity for those affected by CHAMP1 disorders.
- CHAMP1 Research Foundation - Non-Profit raising funds for research into CHAMP1 and CHAMP1 disorders.
- Human CAMP genome location and CAMP gene details page in the UCSC Genome Browser.
- Human CHAMP1 genome location and CHAMP1 gene details page in the UCSC Genome Browser.
Further reading
- "Analysis of a child with autosomal dominant mental retardation type 40 due to variant of CHAMP1 gene". Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (1): 58–61. January 2023. doi:10.1186/s40001-022-00978-4. PMID 36624515. PMC 9827673. https://research.champ1foundation.org/papers-details?recordId=recNdxU9U7gxnssST.
- "Autosomal dominant intellectual disability-40 caused by a de novo mutation of the CHAMP1 gene: a case report". Zhongguo Dang Dai Er Ke Za Zhi 22 (10): 1081–1084. October 2020. doi:10.1186/s13195-020-00686-3. PMID 33066807. PMC 7572235. https://research.champ1foundation.org/papers-details?recordId=recH8D7xSAWyGN6py.
- "CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment". The EMBO Journal 30 (1): 130–44. January 2011. doi:10.1038/emboj.2010.286. PMID 21081896. PMC 3018590. https://research.champ1foundation.org/papers-details?recordId=recR0lveflzilDN0E.
- "CHAMP1 binds to REV7/FANCV and promotes homologous recombination repair". Cell Reports 40 (10). September 2022. doi:10.1016/j.celrep.2022.111297. PMID 36070669. PMC 9481717. https://research.champ1foundation.org/papers-details?recordId=rec8KXcroNFB7jPx4.
- "CHAMP1 Mutations cause Refractory Infantile Myoclonic Epilepsy". Journal of Pediatric Neurology 17 (4): 153–157. October 2019. doi:10.1055/s-0039-1693158. https://research.champ1foundation.org/papers-details?recordId=recBRWBaeYIp879Yn.
- "CHAMP1-POGZ counteracts the inhibitory effect of 53BP1 on homologous recombination and affects PARP inhibitor resistance". Oncogene 41 (19): 2706–2718. May 2022. doi:10.1038/s41388-022-02299-6. PMID 35437340. PMC 9007991. https://research.champ1foundation.org/papers-details?recordId=recHC02GIoFi27jXf.
Deciphering Developmental Disorders Study (March 2015). "Large-scale discovery of novel genetic causes of developmental disorders". Nature 519 (7542): 223–8. doi:10.1038/nature14135. PMID 25533962. PMC 5955210. Bibcode: 2015Natur.519..223T. https://research.champ1foundation.org/papers-details?recordId=rece7x3NqVwWc2lBz.
- "Language in CHAMP1 Syndrome". CHAMP1 Research Foundation. 2020. https://research.champ1foundation.org/papers-details?recordId=recpEDD6JGU6YvaH6.
- "Neurodevelopmental Phenotypes in Individuals with Pathogenic Variants in CHAMP1". CHAMP1 Research Foundation. 2020. https://research.champ1foundation.org/papers-details?recordId=recHluOJD5o9cHkjS.
- "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. November 2006. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nature Biotechnology 24 (10): 1285–92. October 2006. doi:10.1038/nbt1240. PMID 16964243.
- "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America 101 (33): 12130–5. August 2004. doi:10.1073/pnas.0404720101. PMID 15302935. Bibcode: 2004PNAS..10112130B.
- "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research 8 (2): 85–95. April 2001. doi:10.1093/dnares/8.2.85. PMID 11347906.
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