{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T17:03:07Z","timestamp":1769014987668,"version":"3.49.0"},"reference-count":36,"publisher":"MDPI AG","issue":"22","license":[{"start":{"date-parts":[[2023,11,10]],"date-time":"2023-11-10T00:00:00Z","timestamp":1699574400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Grupo de Neurociencias del Caribe, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla, Colombia by MINCIENCIAS","award":["777-2017"],"award-info":[{"award-number":["777-2017"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Huntington\u2019s disease (HD) is a genetic disorder caused by a CAG trinucleotide expansion in the huntingtin (HTT) gene. Juan de Acosta, Atl\u00e1ntico, a city located on the Caribbean coast of Colombia, is home to the world\u2019s second-largest HD pedigree. Here, we include 291 descendants of this pedigree with at least one family member with HD. Blood samples were collected, and genomic DNA was extracted. We quantified the HTT CAG expansion using an amplicon sequencing protocol. The genetic heterogeneity was measured as the ratio of the mosaicism allele\u2019s read peak and the slippage ratio of the allele\u2019s read peak from our sequence data. The statistical and bioinformatic analyses were performed with a significance threshold of p &lt; 0.05. We found that the average HTT CAG repeat length in all participants was 21.91 (SD = 8.92). Of the 291 participants, 33 (11.3%, 18 females) had a positive molecular diagnosis for HD. Most affected individuals were adults, and the most common primary and secondary alleles were 17\/7 (CAG\/CCG) and 17\/10 (CAG\/CCG), respectively. The mosaicism increased with age in the participants with HD, while the slippage analyses revealed differences by the HD allele type only for the secondary allele. The slippage tended to increase with the HTT CAG repeat length in the participants with HD, but the increase was not statistically significant. This study analyzed the genetic and molecular features of 291 participants, including 33 with HD. We found that the mosaicism increased with age in the participants with HD, particularly for the secondary allele. The most common haplotype was 17\/7_17\/10. The slippage for the secondary allele varied by the HD allele type, but there was no significant difference in the slippage by sex. Our findings offer valuable insights into HD and could have implications for future research and clinical management.<\/jats:p>","DOI":"10.3390\/ijms242216154","type":"journal-article","created":{"date-parts":[[2023,11,10]],"date-time":"2023-11-10T05:04:56Z","timestamp":1699592696000},"page":"16154","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Uncovering the Genetic and Molecular Features of Huntington\u2019s Disease in Northern Colombia"],"prefix":"10.3390","volume":"24","author":[{"given":"Mostapha","family":"Ahmad","sequence":"first","affiliation":[{"name":"Facultad de Ciencias de la Salud, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla 080002, Colombia"},{"name":"Life Science Research Center, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla 080002, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margarita R.","family":"R\u00edos-Anillo","sequence":"additional","affiliation":[{"name":"Facultad de Ciencias de la Salud, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla 080002, Colombia"},{"name":"Life Science Research Center, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla 080002, Colombia"},{"name":"M\u00e9dica Residente de Neurolog\u00eda, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla 080002, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johan E.","family":"Acosta-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Life Science Research Center, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla 080002, Colombia"},{"name":"Facultad de Ciencias Jur\u00eddicas y Sociales, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla 080002, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martha L.","family":"Cervantes-Henr\u00edquez","sequence":"additional","affiliation":[{"name":"Life Science Research Center, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla 080002, Colombia"},{"name":"Facultad de Ciencias Jur\u00eddicas y Sociales, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla 080002, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martha","family":"Mart\u00ednez-Banfi","sequence":"additional","affiliation":[{"name":"Life Science Research Center, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla 080002, Colombia"},{"name":"Facultad de Ciencias Jur\u00eddicas y Sociales, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla 080002, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wilmar","family":"Pineda-Alhucema","sequence":"additional","affiliation":[{"name":"Life Science Research Center, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla 080002, Colombia"},{"name":"Facultad de Ciencias Jur\u00eddicas y Sociales, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla 080002, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro","family":"Puentes-Rozo","sequence":"additional","affiliation":[{"name":"Facultad de Ciencias de la Salud, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla 080002, Colombia"},{"name":"Life Science Research Center, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla 080002, Colombia"},{"name":"Grupo de Neurociencias del Caribe, Universidad del Atl\u00e1ntico, Barranquilla 080001, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristian","family":"S\u00e1nchez-Barros","sequence":"additional","affiliation":[{"name":"Facultad de Ciencias de la Salud, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla 080002, Colombia"},{"name":"Life Science Research Center, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla 080002, Colombia"},{"name":"Departamento de Neurofisiolog\u00eda Cl\u00ednica Palma de Mallorca, Hospital Juaneda Miramar, Islas Baleares, 07011 Palma, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9s","family":"Pinz\u00f3n","sequence":"additional","affiliation":[{"name":"Bioinformatics and Systems Biology Laboratory, Institute for Genetics, Universidad Nacional de Colombia, Bogota 111321, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hardip R.","family":"Patel","sequence":"additional","affiliation":[{"name":"National Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, ACT 2601, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3146-7899","authenticated-orcid":false,"given":"Jorge I.","family":"V\u00e9lez","sequence":"additional","affiliation":[{"name":"Department of Industrial Engineering, Universidad del Norte, Barranquilla 081007, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7240-7462","authenticated-orcid":false,"given":"Jos\u00e9 Luis","family":"Villarreal-Camacho","sequence":"additional","affiliation":[{"name":"Programa de Medicina, Facultad de Ciencias de la Salud, Universidad Libre Seccional Barranquilla, Barranquilla 081007, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1080-4796","authenticated-orcid":false,"given":"David A.","family":"Pineda","sequence":"additional","affiliation":[{"name":"Grupo de Investigaci\u00f3n en Neuropsicolog\u00eda y Conducta, Universidad de San Buenaventura, Medellin 050010, Colombia"},{"name":"Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellin 050010, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8529-0574","authenticated-orcid":false,"given":"Mauricio","family":"Arcos-Burgos","sequence":"additional","affiliation":[{"name":"Grupo de Investigaci\u00f3n en Psiquiatr\u00eda (GIPSI), Departamento de Psiquiatr\u00eda, Instituto de Investigaciones M\u00e9dicas, Facultad de Medicina, Universidad de Antioquia, Medellin 050010, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel","family":"S\u00e1nchez-Rojas","sequence":"additional","affiliation":[{"name":"Facultad de Ciencias de la Salud, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla 080002, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,11,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-E","article-title":"A novel gene containing a trinucleotide repeat that 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