Cystic Fibrosis: Clinical profile of 10 patients with R334W mutation compared to ?F508 homozigoty

Cabral, Sara Carla Moura; Pereira, João Pedro Oliveira; Gonçalves, Bruno Gil; Gamboa, Fredy

doi:10.1183/13993003.congress-2020.2766

Cited by 1 publication

(1 citation statement)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Several studies have reported patients with the homozygote R334W genotype, 38 – 40 while the E60K mutation has only been reported in compound heterozygote forms. 41 – 43 To investigate the effects of E60K mutation on the CFTR protein, Gene et al expressed this variant in the HEK 293 cell line and conducted functional studies.…”

Section: Discussionmentioning

confidence: 99%

Identification and in silico structural analysis for the first de novo mutation in the cystic fibrosis transmembrane conductance regulator protein in Iran: case report and developmental insight using microsatellite markers

Hosseini Nami,

Kabiri,

Zafarghandi Motlagh

et al. 2024

Ther Adv Respir Dis

View full text Add to dashboard Cite

Cystic fibrosis (CF) is an autosomal recessive disease caused by the inheritance of two mutant cystic fibrosis transmembrane conductance regulator (CFTR) alleles, one from each parent. Autosomal recessive disorders are rarely associated with germline mutations or mosaicism. Here, we propose a case of paternal germline mutation causing CF. The subject also had an identifiable maternal mutant allele. We identified the compound heterozygous variants in the proband through Sanger sequencing, and in silico studies predicted functional effects on the protein. Also, short tandem repeat markers revealed the de novo nature of the mutation. The maternal mutation in the CFTR gene was c.1000C > T. The de novo mutation was c.178G > A, p.Glu60Lys. This mutation is located in the lasso motif of the CFTR protein and, according to in silico structural analysis, disrupts the interaction of the lasso motif and R-domain, thus influencing protein function. This first reported case of de novo mutation in Asia has notable implications for molecular diagnostics, genetic counseling, and understanding the genetic etiology of recessive disorders in the Iranian population.

show abstract