Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report
Abstract Background Mexico is among the countries showing the highest heterogeneity of CFTR variants. However, no de novo variants have previously been reported in Mexican patients with cystic fibrosis (CF). Case presentation Here, we report the first case of a novel/de novo variant in a Mexican pat...
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| Format: | Article |
| Language: | English |
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BMC
2019-05-01
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| Series: | BMC Medical Genomics |
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| Online Access: | http://link.springer.com/article/10.1186/s12920-019-0528-1 |
| _version_ | 1818570225773182976 |
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| author | Angélica Martínez-Hernández Julieta Larrosa Francisco Barajas-Olmos Humberto García-Ortíz Elvia C. Mendoza-Caamal Cecilia Contreras-Cubas Elaheh Mirzaeicheshmeh José Luis Lezana Lorena Orozco |
| author_facet | Angélica Martínez-Hernández Julieta Larrosa Francisco Barajas-Olmos Humberto García-Ortíz Elvia C. Mendoza-Caamal Cecilia Contreras-Cubas Elaheh Mirzaeicheshmeh José Luis Lezana Lorena Orozco |
| author_sort | Angélica Martínez-Hernández |
| collection | DOAJ |
| description | Abstract Background Mexico is among the countries showing the highest heterogeneity of CFTR variants. However, no de novo variants have previously been reported in Mexican patients with cystic fibrosis (CF). Case presentation Here, we report the first case of a novel/de novo variant in a Mexican patient with CF. Our patient was an 8-year-old male who had exhibited the clinical onset of CF at one month of age, with steatorrhea, malabsorption, poor weight gain, anemia, and recurrent respiratory tract infections. Complete sequencing of the CFTR gene by next generation sequencing (NGS) revealed two different variants in trans, including the previously reported CF-causing variant c.3266G > A (p.Trp1089*, W1089*), that was inherited from the mother, and the novel/de novo CFTR variant c.1762G > T (p.Glu588*). Conclusion Our results demonstrate the efficiency of targeted NGS for making a rapid and precise diagnosis in patients with clinically suspected CF. This method can enable the provision of accurate genetic counselling, and improve our understanding of the molecular basis of genetic diseases. |
| first_indexed | 2024-12-14T06:57:52Z |
| format | Article |
| id | doaj.art-ca333fa5007340e2aff4ed106ac1cee8 |
| institution | Directory Open Access Journal |
| issn | 1755-8794 |
| language | English |
| last_indexed | 2024-12-14T06:57:52Z |
| publishDate | 2019-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj.art-ca333fa5007340e2aff4ed106ac1cee82022-12-21T23:12:35ZengBMCBMC Medical Genomics1755-87942019-05-011211410.1186/s12920-019-0528-1Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case reportAngélica Martínez-Hernández0Julieta Larrosa1Francisco Barajas-Olmos2Humberto García-Ortíz3Elvia C. Mendoza-Caamal4Cecilia Contreras-Cubas5Elaheh Mirzaeicheshmeh6José Luis Lezana7Lorena Orozco8Laboratorio de Inmunogenómica y enfermedades metabólicas, Instituto Nacional de Medicina Genómica,SSLaboratorio de Inmunogenómica y enfermedades metabólicas, Instituto Nacional de Medicina Genómica, SS, CDMX, Mexico y Posgrado en Ciencias Biológicas, Universidad Nacional Autónoma de MéxicoLaboratorio de Inmunogenómica y enfermedades metabólicas, Instituto Nacional de Medicina Genómica,SSLaboratorio de Inmunogenómica y enfermedades metabólicas, Instituto Nacional de Medicina Genómica,SSArea Clínica, Instituto Nacional de Medicina Genómica, SSLaboratorio de Inmunogenómica y enfermedades metabólicas, Instituto Nacional de Medicina Genómica,SSLaboratorio de Inmunogenómica y enfermedades metabólicas, Instituto Nacional de Medicina Genómica,SSClinica de Fibrosis Quística y Laboratorio de Fisiologia Pulmonar Hospital Infantil de México Federico Gómez. Asociación Mexicana de Fibrosis Quística, A. CLaboratorio de Inmunogenómica y enfermedades metabólicas, Instituto Nacional de Medicina Genómica,SSAbstract Background Mexico is among the countries showing the highest heterogeneity of CFTR variants. However, no de novo variants have previously been reported in Mexican patients with cystic fibrosis (CF). Case presentation Here, we report the first case of a novel/de novo variant in a Mexican patient with CF. Our patient was an 8-year-old male who had exhibited the clinical onset of CF at one month of age, with steatorrhea, malabsorption, poor weight gain, anemia, and recurrent respiratory tract infections. Complete sequencing of the CFTR gene by next generation sequencing (NGS) revealed two different variants in trans, including the previously reported CF-causing variant c.3266G > A (p.Trp1089*, W1089*), that was inherited from the mother, and the novel/de novo CFTR variant c.1762G > T (p.Glu588*). Conclusion Our results demonstrate the efficiency of targeted NGS for making a rapid and precise diagnosis in patients with clinically suspected CF. This method can enable the provision of accurate genetic counselling, and improve our understanding of the molecular basis of genetic diseases.http://link.springer.com/article/10.1186/s12920-019-0528-1Cystic fibrosisNext generation sequencingP.Trp1089*P.Glu588*Novel/de novo variant |
| spellingShingle | Angélica Martínez-Hernández Julieta Larrosa Francisco Barajas-Olmos Humberto García-Ortíz Elvia C. Mendoza-Caamal Cecilia Contreras-Cubas Elaheh Mirzaeicheshmeh José Luis Lezana Lorena Orozco Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report BMC Medical Genomics Cystic fibrosis Next generation sequencing P.Trp1089* P.Glu588* Novel/de novo variant |
| title | Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report |
| title_full | Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report |
| title_fullStr | Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report |
| title_full_unstemmed | Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report |
| title_short | Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report |
| title_sort | next generation sequencing for identifying a novel de novo pathogenic variant in a mexican patient with cystic fibrosis a case report |
| topic | Cystic fibrosis Next generation sequencing P.Trp1089* P.Glu588* Novel/de novo variant |
| url | http://link.springer.com/article/10.1186/s12920-019-0528-1 |
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