Article
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
EMBO molecular medicine - 8 Feb 2023
Nabavizadeh Nasrinsadat, Bressin Annkatrin, Shboul Mohammad, Moreno Traspas Ricardo, Chia Poh Hui, Bonnard Carine, Szenker-Ravi Emmanuelle, Sarıbaş Burak, Beillard Emmanuel, Altunoglu Umut, Hojati Zohreh, Drutman Scott, Freier Susanne, El-Khateeb Mohammad, Fathallah Rajaa, Casanova Jean-Laurent, Soror Wesam, Arafat Alaa, Escande-Beillard Nathalie, Mayer Andreas, Reversade Bruno
Abstract excerpt
Exome sequencing has introduced a paradigm shift for the identification of germline variations responsible for Mendelian diseases. However, non-coding regions, which make up 98% of the genome, cannot be captured. The lack of functional annotation for intronic and intergenic variants makes RNA-seq a powerful companion diagnostic. Here, we illustrate this point by identifying six patients with a recessive...
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