9q34 & 16p13 Chromosome Duplications in Autism

Overview

Journal AME Case Rep

Publisher AME Publishing Company

Specialty General Medicine

Date 2020 Aug 15

PMID 32793859

Citations 1

Authors

Simon E Carlo

Maria T Martinez-Baladejo

Alberto Santiago-Cornier

Norma Arciniegas-Medina

Affiliations

Soon will be listed here.

Abstract

Epigenetic mechanisms, genetic factors, and environment influence the diversity of phenotypes developed in various diseases. Duplications in several chromosomes are well characterized in the scientific literature, but partial duplications, in some cases, present with milder forms of a disease and are yet to be understood. Fortunately, the identification of genetic diseases has now become more feasible due to several cytogenetic techniques such as microarray analysis and karyotyping. With these tools, together with other laboratory results and clinical examination, we are able to report the first case in the medical literature of double partial trisomy of chromosome 9q34 and 16p13.

Citing Articles

Global developmental delay and a de novo deletion of the 16p13.13 region.

Krakowski A, Hoang N, Trost B, Summers J, Ambrozewicz P, Vorstman J BMJ Case Rep. 2024; 17(2).

PMID: 38423574 PMC: 10910685. DOI: 10.1136/bcr-2022-251521.

References

Wang X, Liu P, Zhu H, Xu Y, Ma C, Dai X . miR-34a, a microRNA up-regulated in a double transgenic mouse model of Alzheimer's disease, inhibits bcl2 translation. Brain Res Bull. 2009; 80(4-5):268-73. DOI: 10.1016/j.brainresbull.2009.08.006. View

Cornier A, Staehling-Hampton K, Delventhal K, Saga Y, Caubet J, Sasaki N . Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet. 2008; 82(6):1334-41. PMC: 2427230. DOI: 10.1016/j.ajhg.2008.04.014. View

Lacerda A, Hartjes E, Brunetti C . LITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria. PLoS One. 2014; 9(7):e103454. PMC: 4110028. DOI: 10.1371/journal.pone.0103454. View

Nakaya N, Lee H, Takada Y, Tzchori I, Tomarev S . Zebrafish olfactomedin 1 regulates retinal axon elongation in vivo and is a modulator of Wnt signaling pathway. J Neurosci. 2008; 28(31):7900-10. PMC: 2692209. DOI: 10.1523/JNEUROSCI.0617-08.2008. View

Mohamed A, Kamel A, Mahmoud W, Abdelraouf E, Meguid N . Intellectual disability secondary to a 16p13 duplication in a 1;16 translocation. Extended phenotype in a four-generation family. Am J Med Genet A. 2014; 167A(1):128-36. DOI: 10.1002/ajmg.a.36834. View

Kannan T, Hemlatha S, Ankathil R, Zilfalil B . Clinical manifestations in trisomy 9. Indian J Pediatr. 2009; 76(7):745-6. DOI: 10.1007/s12098-009-0158-2. View

Matsushita M, Endo Y, Hamasaki N, Fujita T . Activation of the lectin complement pathway by ficolins. Int Immunopharmacol. 2001; 1(3):359-63. DOI: 10.1016/s1567-5769(00)00045-x. View

Oliva R . Protamines and male infertility. Hum Reprod Update. 2006; 12(4):417-35. DOI: 10.1093/humupd/dml009. View

Soleimanpour S, Gupta A, Bakay M, Ferrari A, Groff D, Fadista J . The diabetes susceptibility gene Clec16a regulates mitophagy. Cell. 2014; 157(7):1577-90. PMC: 4184276. DOI: 10.1016/j.cell.2014.05.016. View

10.

Amarillo I, OConnor S, Lee C, Willing M, Wambach J . De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome. Am J Med Genet A. 2016; 167A(12):2966-74. PMC: 8792801. DOI: 10.1002/ajmg.a.37296. View

11.

Xu D, Wang C, Jiang F, Wei L, Shi L, Yu X . Association of the FCN2 Gene Single Nucleotide Polymorphisms with Susceptibility to Pulmonary Tuberculosis. PLoS One. 2015; 10(9):e0138356. PMC: 4574923. DOI: 10.1371/journal.pone.0138356. View

12.

Hirschfield G, Xie G, Lu E, Sun Y, Juran B, Chellappa V . Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes. Genes Immun. 2012; 13(4):328-35. PMC: 3360983. DOI: 10.1038/gene.2011.89. View

13.

Gori F, Friedman L, Demay M . Wdr5, a novel WD repeat protein, regulates osteoblast and chondrocyte differentiation in vivo. J Musculoskelet Neuronal Interact. 2005; 5(4):338-9. View

14.

Camargo L, Collura V, Rain J, Mizuguchi K, Hermjakob H, Kerrien S . Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia. Mol Psychiatry. 2006; 12(1):74-86. DOI: 10.1038/sj.mp.4001880. View

15.

Dai X, Guo W, Zhan C, Liu X, Bai Z, Yang Y . WDR5 Expression Is Prognostic of Breast Cancer Outcome. PLoS One. 2015; 10(9):e0124964. PMC: 4565643. DOI: 10.1371/journal.pone.0124964. View

16.

Shibata M, Nakao H, Kiyonari H, Abe T, Aizawa S . MicroRNA-9 regulates neurogenesis in mouse telencephalon by targeting multiple transcription factors. J Neurosci. 2011; 31(9):3407-22. PMC: 6623912. DOI: 10.1523/JNEUROSCI.5085-10.2011. View

17.

Anjosa Z, Santos M, Rodrigues N, Lacerda G, Araujo J, de Azevedo Silva J . Polymorphism in ficolin-1 (FCN1) gene is associated with an earlier onset of type 1 diabetes mellitus in children and adolescents from northeast Brazil. J Genet. 2016; 95(4):1031-1034. DOI: 10.1007/s12041-016-0719-x. View

18.

Chae S, Yu J, Oh G, Choi C, Choi S, Yang Y . Identification of single nucleotide polymorphisms in the TNFRSF17 gene and their association with gastrointestinal disorders. Mol Cells. 2009; 29(1):21-8. DOI: 10.1007/s10059-010-0002-6. View

19.

Baker B, Akhtar L, Benveniste E . SOCS1 and SOCS3 in the control of CNS immunity. Trends Immunol. 2009; 30(8):392-400. PMC: 2836122. DOI: 10.1016/j.it.2009.07.001. View

20.

Godinho M, Sieuwerts A, Look M, Meijer D, Foekens J, Dorssers L . Relevance of BCAR4 in tamoxifen resistance and tumour aggressiveness of human breast cancer. Br J Cancer. 2010; 103(8):1284-91. PMC: 2967058. DOI: 10.1038/sj.bjc.6605884. View