Protein-coding gene in the species Homo sapiens
Chromosome alignment-maintaining phosphoprotein 1 (CHAMP1) also known as zinc finger protein 828 (ZNF828) is a protein that in humans is encoded by the CHAMP1 gene .[ 5] [ 6]
Clinical Significance
Mutations in the CHAMP1 gene are associated with a neurodevelopmental disorder characterized by intellectual disability and severe speech impairment.[ 7] [ 8] CHAMP1-related neurodevelopmental disorder [ 9] de novo mutations, meaning they are not inherited from the parents.[ 10]
Individuals with this disorder typically present with a range of symptoms, including global developmental delay, intellectual disability, and significant speech impairment.[ 11] [ 12] [ 13] [ 11]
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.[ 12]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000198824 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000047710 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Entrez Gene: C13orf8 chromosome 13 open reading frame 8" .^ Li F, Zhang T, Syed A, Elbakry A, Holmer N, Nguyen H, Mukkavalli S, Greenberg RA, D'Andrea AD (February 2025). "CHAMP1 complex directs heterochromatin assembly and promotes homology-directed DNA repair" . Nat Commun . 16 (1) 1714. Bibcode :2025NatCo..16.1714L . doi :10.1038/s41467-025-56834-6 . PMC 11832927 PMID 39962076 . ^ Hempel M, Cremer K, Ockeloen CW (November 2015). "De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment" . Journal of Medical Genetics . 52 (11): 758– 762. doi :10.1177/1545968315604395 . PMC 4680190 PMID 26359341 . ^ Héron D, Tabet AC, Mignot C (October 2018). "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. doi :10.1016/j.ajhg.2018.08.011 . PMC 6174321 PMID 30196985 . ^ Mattioli F, Magini P, Bedeschi MF (April 2024). "CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories" . Human Genetics . 31 (21): 30836– 30848. doi :10.1007/s11356-024-33168-2 . PMC 11096217 PMID 38622415 . ^ Tanaka AJ, Cho MT, Millan F (December 2018). "De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features" . Human Mutation . 39 (12): 1903– 1915. doi :10.1002/humu.23652 . PMC 6294708 PMID 30252159 . ^ a b Schaaf CP, Koster J, Foulds N (May 2023). "A disease conceptual model for CHAMP1-related disorder" . Journal of Neurodevelopmental Disorders . 15 (1): 19. doi :10.1186/s12941-023-00586-y PMC 10202970 PMID 37202758 . ^ a b Abi Raad S, Salignat V, Auvin S (July 2023). "CHAMP1-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature" . Genes . 14 (7): 7361– 7374. doi :10.3390/genes14071432 PMC 10381650 PMID 37489569 . ^ Levy T, Le Caignec C, Isidor B (July 2022). "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 . PMC 9288764 PMID 35084013 .
External links
Further reading
Yan H, Wang Y, Wang J (January 2023). "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. doi :10.1186/s40001-022-00978-4 PMC 9827673 PMID 36624515 . Wang MM, Peng J, Zhou Y, He XY, Cao B (October 2020). "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. doi :10.1186/s13195-020-00686-3 PMC 7572235 PMID 33066807 . Itoh G, Kaji M, Kito K, Kabe Y, Hata A, Kiyono T (January 2011). "CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment" . The EMBO Journal . 30 (1): 130– 44. doi :10.1038/emboj.2010.286 . PMC 3018590 PMID 21081896 . Li F, Zhang T, Syed A, Elbakry A, Holmer N, Nguyen H, Mukkavalli S, Greenberg RA, D'Andrea AD (September 2022). "CHAMP1 binds to REV7/FANCV and promotes homologous recombination repair" . Cell Reports . 40 (10) 111297. doi :10.1016/j.celrep.2022.111297 . PMC 9481717 PMID 36070669 . Ben-Haim R, Zehavi Y, Yilmaz R, Sagi-Dain L, Ben-Zeev B, Tzadok M (October 2019). "CHAMP1 Mutations cause Refractory Infantile Myoclonic Epilepsy" . Journal of Pediatric Neurology . 17 (4): 153– 157. doi :10.1055/s-0039-1693158 Fujita H, Fukuda T, Hori M, Nakagawa K (May 2022). "CHAMP1-POGZ counteracts the inhibitory effect of 53BP1 on homologous recombination and affects PARP inhibitor resistance" . Oncogene . 41 (19): 2706– 2718. doi :10.1038/s41388-022-02299-6 . PMC 9007991 PMID 35437340 . Deciphering Developmental Disorders Study (March 2015). "Large-scale discovery of novel genetic causes of developmental disorders" . Nature . 519 (7542): 223– 8. Bibcode :2015Natur.519..223T . doi :10.1038/nature14135 . PMC 5955210 PMID 25533962 .
Whelan, C; Clegg, T (2020). "Language in CHAMP1 Syndrome" . CHAMP1 Research Foundation. Clegg, T; Glaser, K (2020). "Neurodevelopmental Phenotypes in Individuals with Pathogenic Variants in CHAMP1" . CHAMP1 Research Foundation. Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (November 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks" . Cell . 127 (3): 635– 48. doi :10.1016/j.cell.2006.09.026 PMID 17081983 . Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP (October 2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nature Biotechnology . 24 (10): 1285– 92. doi :10.1038/nbt1240 . PMID 16964243 . S2CID 14294292 . Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (August 2004). "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. Bibcode :2004PNAS..10112130B . doi :10.1073/pnas.0404720101 PMC 514446 PMID 15302935 . Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (April 2001). "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. doi :10.1093/dnares/8.2.85 PMID 11347906 .
