CFTR pathogenic variants spectrum in a cohort of Mexican patients with cystic fibrosis

Martínez-Hernández, Angélica; Mendoza-Caamal, Elvia C.; Mendiola-Vidal, Namibia G.; Barajas-Olmos, Francisco; Villafan-Bernal, José Rafael; Jiménez-Ruiz, Juan Luis; Monge-Cazares, Tulia; García-Ortiz, Humberto; Cubas, Cecilia Contreras-; Centeno-Cruz, Federico; Alaez-Verson, Carmen; Ortega-Torres, Soraya; Luna-Castañeda, Adriana del C.; Baca, Vicente; Lezana, José Luis; Orozco, Lorena

doi:10.1016/j.heliyon.2024.e28984

Heliyon

2024

DOI: 10.1016/j.heliyon.2024.e28984

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CFTR pathogenic variants spectrum in a cohort of Mexican patients with cystic fibrosis

Angélica Martínez-Hernández,

Elvia C. Mendoza-Caamal,

Namibia G. Mendiola-Vidal

et al.

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2024

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Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] in Cystic Fibrosis and Tracing of a Founder Effect in Mexican Families

Mendiola-Vidal,

Contreras-Cubas,

Barajas-Olmos

et al. 2024

Life

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Cystic fibrosis (CF) is a rare autosomal recessive disease most commonly affecting the Caucasian population. CF diagnosis can be a challenge due to the large spectrum of pathogenic variants in the CFTR gene and the effects of complex alleles. Next-generation sequencing has improved our understanding of the contribution of these complex alleles to the wide spectrum of CF clinical symptoms and to the response to medications. Herein, we studied nine CF patients from six unrelated families carrying the complex allele p.[Ile148Thr;Ile1023_Val1024del] with a frequency of 0.18%. All patients were from Central Mexico. This complex allele was found in trans with Class I and II pathogenic variants such as p.(Phe508del), and p.(Phe1078Profs*77)]. A targeted search of a dataset of 2217 exomes from healthy individuals revealed that eight individuals (0.18%) carried the p.(Ile148Thr) variant, but only one (0.022%), who was also born in Central Mexico, was a carrier of the complex allele. These findings show an enrichment of this p.[Ile148Thr;Ile1023_Val1024del] complex allele in Mexican CF patients in this region of Mexico. Finally, protein modeling revealed that this complex allele disrupts the secondary structure of the CFTR protein and might alter the ion flow.

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Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] in Cystic Fibrosis and Tracing of a Founder Effect in Mexican Families

Mendiola-Vidal,

Contreras-Cubas,

Barajas-Olmos

et al. 2024

Life

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show abstract

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CFTR pathogenic variants spectrum in a cohort of Mexican patients with cystic fibrosis

Cited by 1 publication

References 20 publications

Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] in Cystic Fibrosis and Tracing of a Founder Effect in Mexican Families

Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] in Cystic Fibrosis and Tracing of a Founder Effect in Mexican Families

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