Article
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
Journal of medical genetics - 1 Oct 2022
Bertoli-Avella Aida, Hotakainen Ronja, Al Shehhi Maryam, Urzi Alice, Pareira Catarina, Marais Anett, Al Shidhani Khoula, Aloraimi Sumaya, Morales-Torres Galina, Fisher Steffen, Demuth Laura, Moteleb Selim Laila Abdel, Al Menabawy Nihal, Busehail Maryam, AlShaikh Mohammed, Gilani Naser, Chalabi Dler Nooruldeen, Alharbi Nasser S, Alfadhel Majid, Abdelrahman Mohammed, Venselaar Hanka, Anjum Nadeem, Saeed Anjum, Alghamdi Malak Ali, Aljaedi Hamad, Arabi Hisham, Karageorgou Vasiliki, Khan Suliman, Hajjari Zahra, Radefeldt Mandy, Al-Ali Ruslan, Tripolszki Kornelia, Jamhawi Amer, Paknia Omid, Cozma Claudia, Cheema Huma, Ameziane Najim, Al-Muhsen Saleh, Bauer Peter
Abstract excerpt
PURPOSE: We sought to describe a disorder clinically mimicking cystic fibrosis (CF) and to elucidate its genetic cause. METHODS: Exome/genome sequencing and human phenotype ontology data of nearly 40 000 patients from our Bio/Databank were analysed. RNA sequencing of samples from the nasal mucosa from patients, carriers and controls followed by transcriptome analysis was performed. RESULTS: We identified 13...
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