Experiences of the molecular diagnosis of fragile X syndrome in Ecuador
Fragile X syndrome (FXS) is the most common cause of hereditary intellectual disability and the second most common cause of intellectual disability of genetic etiology. This complex neurodevelopmental disorder is caused by an alteration in the CGG trinucleotide expansion in fragile X mental retardat...
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| Format: | ARTÍCULO |
| Language: | es_ES |
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2022
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| Online Access: | http://dspace.ucuenca.edu.ec/handle/123456789/37996 https://www.scopus.com/record/display.uri?eid=2-s2.0-85121809131&origin=resultslist&sort=plf-f&src=s&st1=Experiences+of+the+Molecular+Diagnosis+of+Fragile+X+Syndrome+in+Ecuador&sid=9c81de9cf244c46ca8aa3c7d76c0e1d4&sot=b&sdt=b&sl=86&s=TITLE-ABS-KEY%28Experiences+of+the+Molecular+Diagnosis+of+Fragile+X+Syndrome+in+Ecuador%29&relpos=0&citeCnt=0&searchTerm= |
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| author | Lopez Caceres, Andrea Del pilar Pozo Palacios, Juan Carlos Llamos Paneque, Arianne Rivas, Christian Onofre, Emily Villareal, Jennifer |
| author_facet | Lopez Caceres, Andrea Del pilar Pozo Palacios, Juan Carlos Llamos Paneque, Arianne Rivas, Christian Onofre, Emily Villareal, Jennifer |
| author_sort | Lopez Caceres, Andrea Del pilar |
| collection | DSpace |
| description | Fragile X syndrome (FXS) is the most common cause of hereditary intellectual disability and the second most common cause of intellectual disability of genetic etiology. This complex neurodevelopmental disorder is caused by an alteration in the CGG trinucleotide expansion in fragile X mental retardation gene 1 (FMR1) leading to gene silencing and the subsequent loss of its product: fragile X mental retardation protein 1 (FMRP). Molecular diagnosis is based on polymerase chain reaction (PCR) screening followed by Southern blotting (SB) or Triplet primer-PCR (TP-PCR) to determine the number of CGG repeats in the FMR1 gene. We performed, for the first time, screening in 247 Ecuadorian male individuals with clinical criteria to discard FXS. Analysis was carried out by the Genetics Service of the Hospital de Especialidades No. 1 de las Fuerzas Armadas (HE-1), Ecuador. The analysis was performed using endpoint PCR for CGG fragment expansion analysis of the FMR1 gene. Twenty-two affected males were identified as potentially carrying the full mutation in FMR1 and thus diagnosed with FXS that is 8.1% of the sample studied. The average age at diagnosis of the positive cases was 13 years of age, with most cases from the geographical area of Pichincha (63.63%). We confirmed the familial nature of the disease in four cases. The range of CGG variation in the population was 12–43 and followed a modal distribution of 27 repeats. Our results were similar to those reported in the literature; however, since it was not possible to differentiate between premutation and mutation cases, we can only establish a molecular screening approach to identify an expanded CGG repeat, which makes it necessary to generate national strategies to optimize molecular tests and establish proper protocols for the diagnosis, management, and follow-up of patients, families, and communities at risk of presenting FXS. Copyright © 2021 Pozo-Palacios, Llamos-Paneque, Rivas, Onofre, López-Cáceres and Villareal. |
| format | ARTÍCULO |
| id | oai:dspace.ucuenca.edu.ec:123456789-37996 |
| institution | Universidad de Cuenca |
| language | es_ES |
| publishDate | 2022 |
| record_format | dspace |
| spelling | oai:dspace.ucuenca.edu.ec:123456789-379962024-02-01T19:41:37Z Experiences of the molecular diagnosis of fragile X syndrome in Ecuador Lopez Caceres, Andrea Del pilar Pozo Palacios, Juan Carlos Llamos Paneque, Arianne Rivas, Christian Onofre, Emily Villareal, Jennifer Repetitions Dynamic mutation diseases FMR1 Fragile X syndrome Intellectual disabilities Fragile X syndrome (FXS) is the most common cause of hereditary intellectual disability and the second most common cause of intellectual disability of genetic etiology. This complex neurodevelopmental disorder is caused by an alteration in the CGG trinucleotide expansion in fragile X mental retardation gene 1 (FMR1) leading to gene silencing and the subsequent loss of its product: fragile X mental retardation protein 1 (FMRP). Molecular diagnosis is based on polymerase chain reaction (PCR) screening followed by Southern blotting (SB) or Triplet primer-PCR (TP-PCR) to determine the number of CGG repeats in the FMR1 gene. We performed, for the first time, screening in 247 Ecuadorian male individuals with clinical criteria to discard FXS. Analysis was carried out by the Genetics Service of the Hospital de Especialidades No. 1 de las Fuerzas Armadas (HE-1), Ecuador. The analysis was performed using endpoint PCR for CGG fragment expansion analysis of the FMR1 gene. Twenty-two affected males were identified as potentially carrying the full mutation in FMR1 and thus diagnosed with FXS that is 8.1% of the sample studied. The average age at diagnosis of the positive cases was 13 years of age, with most cases from the geographical area of Pichincha (63.63%). We confirmed the familial nature of the disease in four cases. The range of CGG variation in the population was 12–43 and followed a modal distribution of 27 repeats. Our results were similar to those reported in the literature; however, since it was not possible to differentiate between premutation and mutation cases, we can only establish a molecular screening approach to identify an expanded CGG repeat, which makes it necessary to generate national strategies to optimize molecular tests and establish proper protocols for the diagnosis, management, and follow-up of patients, families, and communities at risk of presenting FXS. Copyright © 2021 Pozo-Palacios, Llamos-Paneque, Rivas, Onofre, López-Cáceres and Villareal. 2022-02-08T16:45:25Z 2022-02-08T16:45:25Z 2021 ARTÍCULO 1664-0640 http://dspace.ucuenca.edu.ec/handle/123456789/37996 https://www.scopus.com/record/display.uri?eid=2-s2.0-85121809131&origin=resultslist&sort=plf-f&src=s&st1=Experiences+of+the+Molecular+Diagnosis+of+Fragile+X+Syndrome+in+Ecuador&sid=9c81de9cf244c46ca8aa3c7d76c0e1d4&sot=b&sdt=b&sl=86&s=TITLE-ABS-KEY%28Experiences+of+the+Molecular+Diagnosis+of+Fragile+X+Syndrome+in+Ecuador%29&relpos=0&citeCnt=0&searchTerm= 10.3389/fpsyt.2021.716311 es_ES application/pdf Frontiers in Psychiatry |
| spellingShingle | Repetitions Dynamic mutation diseases FMR1 Fragile X syndrome Intellectual disabilities Lopez Caceres, Andrea Del pilar Pozo Palacios, Juan Carlos Llamos Paneque, Arianne Rivas, Christian Onofre, Emily Villareal, Jennifer Experiences of the molecular diagnosis of fragile X syndrome in Ecuador |
| title | Experiences of the molecular diagnosis of fragile X syndrome in Ecuador |
| title_full | Experiences of the molecular diagnosis of fragile X syndrome in Ecuador |
| title_fullStr | Experiences of the molecular diagnosis of fragile X syndrome in Ecuador |
| title_full_unstemmed | Experiences of the molecular diagnosis of fragile X syndrome in Ecuador |
| title_short | Experiences of the molecular diagnosis of fragile X syndrome in Ecuador |
| title_sort | experiences of the molecular diagnosis of fragile x syndrome in ecuador |
| topic | Repetitions Dynamic mutation diseases FMR1 Fragile X syndrome Intellectual disabilities |
| url | http://dspace.ucuenca.edu.ec/handle/123456789/37996 https://www.scopus.com/record/display.uri?eid=2-s2.0-85121809131&origin=resultslist&sort=plf-f&src=s&st1=Experiences+of+the+Molecular+Diagnosis+of+Fragile+X+Syndrome+in+Ecuador&sid=9c81de9cf244c46ca8aa3c7d76c0e1d4&sot=b&sdt=b&sl=86&s=TITLE-ABS-KEY%28Experiences+of+the+Molecular+Diagnosis+of+Fragile+X+Syndrome+in+Ecuador%29&relpos=0&citeCnt=0&searchTerm= |
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