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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.

Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report