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.
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