دورية أكاديمية
Fragile X syndrome in the largest world clustering. I. Genetic epidemiology and founder effect outline.
| العنوان: | Fragile X syndrome in the largest world clustering. I. Genetic epidemiology and founder effect outline. |
|---|---|
| المؤلفون: | Ramírez-Cheyne J; Hospital Universitario del Valle, Universidad del Valle, Cali, Colombia., López D; Department of Biological Science, Faculty of Agricultural Sciences, Universidad Nacional de Colombia, Palmira, Colombia., Payán-Gómez C; Dirección Académica, Universidad Nacional de Colombia. Sede de La Paz. Cesar, Colombia., Arcos-Burgos M; Instituto de Investigaciones Médicas, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia., Saldarriaga W; Hospital Universitario del Valle, Universidad del Valle, Cali, Colombia. |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63523. Date of Electronic Publication: 2024 Jan 02. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Hoboken, N.J. : Wiley-Blackwell Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
| مواضيع طبية MeSH: | Fragile X Syndrome*/epidemiology , Fragile X Syndrome*/genetics, Male ; Humans ; Female ; Founder Effect ; Molecular Epidemiology ; Fragile X Mental Retardation Protein/genetics ; Trinucleotide Repeat Expansion ; Mutation |
| مستخلص: | The FMR1 5' regulation gene region harbors a CGG trinucleotide repeat expansion (CGG-TRE) that causes Fragile X syndrome (FXS) when it expands to more than 200 repetitions. Ricaurte is a small village in southwestern Colombia, with an FXS prevalence of 1 in 38 men and 1 in 100 women (~100 times higher than the worldwide reported prevalence), defining Ricaurte as the largest FXS cluster in the world. In the present study, using next-generation sequencing of whole exome capture, we genotype 55 individuals from Ricaurte (49 with either full mutation or with premutation), four individuals from neighboring villages (with either the full mutation or with the premutation), and one unaffected woman, native of Ricaurte, who did not belong to any of the affected families. With advanced clustering and haplotype reconstruction, we modeled a common haplotype of 33 SNPs spanning 83,567,899 bp and harboring the FMR1 gene. This reconstructed haplotype was found in all the men from Ricaurte who carried the expansion, demonstrating that the genetic conglomerate of FXS in this population is due to a founder effect. The definition of this founder effect and its population outlining will allow a better prediction, follow-up, precise and personalized characterization of epidemiological parameters, better knowledge of the disease's natural history, and confident improvement of the clinical attention, life quality, and health interventions for this community. (© 2024 Wiley Periodicals LLC.) |
| References: | Arcos‐Burgos, M., & Muenke, M. (2002). Genetics of population isolates. Clinical Genetics, 61, 233–247. Bagni, C., Tassone, F., Neri, G., & Hagerman, R. (2012a). Fragile X syndrome: Causes, diagnosis, mechanisms, and therapeutics. The Journal of Clinical Investigation, 122(12), 4314–4322. Bagni, C., Tassone, F., Neri, G., & Hagerman, R. (2012b). Fragile X syndrome: Causes, diagnosis, mechanisms, and therapeutics. Journal of Clinical Investigation, 122, 4314–4322. Bravo, M. L., Valenzuela, C. Y., & Arcos‐Burgos, O. M. (1996). Polymorphisms and phyletic relationships of the Paisa community from Antioquia (Colombia). Gene Geography, 10(1), 11–17. Brown, V., Jin, P., Ceman, S., Darnell, J. C., O'Donnell, W. T., Tenenbaum, S. A., Jin, X., Feng, Y., Wilkinson, K. D., Keene, J. D., Darnell, R. B., & Warren, S. T. (2001). Microarray identification of FMRP‐associated brain mRNAs and altered mRNA translational profiles in Fragile X syndrome. Cell, 107(4), 477–487. Castilla, E. E., & Schuler‐faccini, L. (2014). From rumors to genetic isolates. Genetics and Molecular Biology, 37(1), 186–193. Chen, L., Yun, S. W., Seto, J., Liu, W., & Toth, M. (2003). The fragile X mental retardation protein binds and regulates a novel class of mRNAs containing u rich target sequences. Neuroscience, 120(4), 1005–1017. Clement, M., Posada, D., & Crandall, K. A. (2000). TCS: A computer program to estimate gene genealogies. Molecular Ecology, 9(10), 1657–1659. Coffee, B., Keith, K., Albizua, I., Malone, T., Mowrey, J., Sherman, S. L., & Warren, S. T. (2009). Incidence of Fragile X syndrome by newborn screening for methylated FMR1 DNA. American Journal of Human Genetics, 85(4), 503–514. Darnell, J. C., Jensen, K. B., Jin, P., Brown, V., Warren, S. T., & Darnell, R. B. (2001). Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function. Cell, 107(4), 489–499. Darnell, J. C., van Driesche, S. J., Zhang, C., Hung, K. Y. S., Mele, A., Fraser, C. E., Stone, E. F., Chen, C., Fak, J. J., Chi, S. W., Licatalosi, D. D., Richter, J. D., & Darnell, R. B. (2011). FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell, 146(2), 247–261. Eichler, E. E., Macpherson, J. N., Murray, A., Jacobs, P. A., Chakravarti, A., & Nelson, D. L. (1996). Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the Fragile X syndrome. Human Molecular Genetics, 5(3), 319–330. Fernandez‐Carvajal, I., Walichiewicz, P., Xiaosen, X., Pan, R., Hagerman, P. J., & Tassone, F. (2009). Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. Journal of Molecular Diagnostics, 11(4), 324–329. Fu, Y. H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Jr., Warren, S. T., Oostra, B. A., Nelson, D. L., & Caskey, C. T. (1991). Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell, 67(6), 1047–1058. Hagerman, P. J., & Hagerman, R. J. (2004). The fragile‐X premutation: A maturing perspective. American Journal of Human Genetics, 74, 805–816. Hagerman, R., & Hagerman, P. (2013). Advances in clinical and molecular understanding of the FMR1 premutation and fragile X‐associated tremor/ataxia syndrome. Lancet Neurology, 12(8), 786–798. Hagerman, R. J., & Hagerman, P. J. (2002). The fragile X premutation: Into the phenotypic fold. Current Opinion in Genetics and Development, 12, 278–283. Hagerman, R. J., Hall, D. A., Coffey, S., Leehey, M., Bourgeois, J., Gould, J., Zhang, L., Seritan, A., Berry‐Kravis, E., Olichney, J., Miller, J. W., Fong, A. L., Carpenter, R., Bodine, C., Gane, L. W., Rainin, E., Hagerman, H., & Hagerman, P. J. (2008). Treatment of fragile X‐associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clinical Interventions in Aging, 3, 251–262. Hirst, M. C., Knight, S. J. L., Christodoulou, Z., Grewal, P. K., Fryns, J. P., & Davies, K. E. (1993). Origins of the Fragile X syndrome mutation. Journal of Medical Genetics, 30(8), 647–650. Jacquemont, S., Hagerman, R. J., Hagerman, P. J., & Leehey, M. A. (2007). Fragile‐X syndrome and fragile X‐associated tremor/ataxia syndrome: Two faces of FMR1. Lancet Neurology, 6, 45–55. Jeroncic, A., Memari, Y., Ritchie, G. R. S., Hendricks, A. E., Kolb‐kokocinski, A., Matchan, A., Vitart, V., Hayward, C., Kolcic, I., Glodzik, D., Wright, A. F., Rudan, I., Campbell, H., Durbin, R., Polašek, O., Zeggini, E., & Boraska Perica, V. (2016). Whole‐exome sequencing in an isolated population from the Dalmatian Island of Vis. European Journal of Human Genetics, 24, 1479–1487. Mardis, E. R. (2011). A decade's perspective on DNA sequencing technology. Nature, 470(7333), 198–203. McKusick, V. A. (2007). Mendelian inheritance in man and its online version, OMIM. American Journal of Human Genetics, 80, 588–604. McKusick‐Nathans Institute of Genetic Medicine, & Johns Hopkins University School of Medicine. (2018). OMIM. OMIM. Palacio, J. D., Castellanos, F. X., Pineda, D. A., Lopera, F., Arcos‐Burgos, M., Quiroz, Y. T., Henao, G. C., Puerta, I. C., Ramírez, D. L., Rapoport, J. L., Bailey‐Wilson, J., Berg, K., & Muenke, M. (2004). Attention‐deficit/hyperactivity disorder and comorbidities in 18 Paisa Colombian multigenerational families. Journal of the American Academy of Child and Adolescent Psychiatry, 43(12), 1506–1515. Pérez‐Póveda, J. C., Palacio Baena, L. G., & Arcos‐Burgos, M. (2005). Description of an endogamous, multigenerational and extensive family with benign hereditary chorea from the Paisa community. Revista de Neurologia, 41(2), 95–98. Rousseau‐Nepton, I., Okubo, M., Grabs, R., Mitchell, J., Polychronakos, C., & Rodd, C. (2015). A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole‐exome sequencing: A case series. CMAJ, 187(2), E68–E73. Saldarriaga, W., Forero‐Forero, J. V., Fandiño‐Losada, A., Ramírez‐Cheyne, J., Rodríguez‐Forero, J. T., & Tassone, F. (2016). Consejería genética y reproductiva en portadores de premutación en un conglomerado geográfico de síndrome X frágil. Revista Colombiana de Obstetricia y Ginecología, 67(2), 159–160. Saldarriaga, W., Forero‐Forero, J. V., González‐Teshima, L. Y., Fandiño‐Losada, A., Isaza, C., Tovar‐Cuevas, J. R., Silva, M., Choudhary, N. S., Tang, H. T., Aguilar‐Gaxiola, S., Hagerman, R. J., & Tassone, F. (2018). Genetic cluster of Fragile X syndrome in a Colombian district. Journal of Human Genetics, 63(4), 509–516. Saldarriaga, W., Salcedo‐Arellano, M. J., Rodriguez‐Guerrero, T., Ríos, M., Fandiño‐Losada, A., Ramirez‐Cheyne, J., Lein, P. J., Tassone, F., & Hagerman, R. J. (2019). Increased severity of Fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia. International Journal of Developmental Neuroscience, 72, 72–75. Saldarriaga, W., Tassone, F., González‐Teshima, L. Y., Forero‐Forero, J. V., Ayala‐Zapata, S., & Hagerman, R. (2014). FRAGILE X syndrome. Colombia Medica, 45(4), 190–198. Steward, O., Farris, S., Pirbhoy, P. S., Darnell, J., & van Driesche, S. J. (2015). Localization and local translation of Arc/Arg3.1 mRNA at synapses: Some observations and paradoxes. Frontiers in Molecular Neuroscience, 7, 101. Tassone, F., Iong, K. P., Tong, T. H., Lo, J., Gane, L. W., Berry‐Kravis, E., Nguyen, D., Mu, L. Y., Laffin, J., Bailey, D. B., & Hagerman, R. J. (2012). FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Medicine, 4(12), 100. van Driesche, S. J., Sawicka, K., Zhang, C., Hung, S. K. Y., Park, C. Y., Fak, J. J., Yang, C., Darnell, R. B., & Darnell, J. C. (2019). FMRP binding to a ranked subset of long genes is revealed by coupled CLIP and TRAP in specific neuronal cell types. bioRxiv. https://doi.org/10.1101/762500. Verkerk, A. J., Pieretti, M., Sutcliffe, J. S., Fu, Y. H., Kuhl, D. P., Pizzuti, A., Reiner, O., Richards, S., & Victoria, M. F. Z. F. (1991). Identification of a gene (FMR‐1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in Fragile X syndrome. Cell, 65, 905–914. Yrigollen, C. M., Sweha, S., Durbin‐Johnson, B., Zhou, L., Berry‐Kravis, E., Fernandez‐Carvajal, I., Faradz, S. M. H., Amiri, K., Shaheen, H., Polli, R., Murillo‐Bonilla, L., De Jesus Silva Arevalo, G., Cogram, P., Murgia, A., & Tassone, F. (2014). Distribution of AGG interruption patterns within nine world populations. Intractable & Rare Diseases Research, 3(4), 153–161. Zheng‐Bradley, X., & Flicek, P. (2017). Applications of the 1000 genomes project resources. Briefings in Functional Genomics, 16(3), 163–170. |
| فهرسة مساهمة: | Keywords: Colombia; FMR1; Fragile X syndrome; exomic sequencing; founder effect; population isolates |
| المشرفين على المادة: | 139135-51-6 (Fragile X Mental Retardation Protein) 0 (FMR1 protein, human) |
| تواريخ الأحداث: | Date Created: 20240102 Date Completed: 20240411 Latest Revision: 20240411 |
| رمز التحديث: | 20240411 |
| DOI: | 10.1002/ajmg.a.63523 |
| PMID: | 38164622 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-4833 |
|---|---|
| DOI: | 10.1002/ajmg.a.63523 |