De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

doi:10.1016/j.ajhg.2020.06.016

Article

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

American journal of human genetics - 6 Aug 2020

Manole Andreea, Efthymiou Stephanie, O'Connor Emer, Mendes Marisa I, Jennings Matthew, Maroofian Reza, Davagnanam Indran, Mankad Kshitij, Lopez Maria Rodriguez, Salpietro Vincenzo, Harripaul Ricardo, Badalato Lauren, Walia Jagdeep, Francklyn Christopher S, Athanasiou-Fragkouli Alkyoni, Sullivan Roisin, Desai Sonal, Baranano Kristin, Zafar Faisal, Rana Nuzhat, Ilyas Muhammed, Horga Alejandro, Kara Majdi, Mattioli Francesca, Goldenberg Alice, Griffin Helen, Piton Amelie, Henderson Lindsay B, Kara Benyekhlef, Aslanger Ayca Dilruba, Raaphorst Joost, Pfundt Rolph, Portier Ruben, Shinawi Marwan, Kirby Amelia, Christensen Katherine M, Wang Lu, Rosti Rasim O, Paracha Sohail A, Sarwar Muhammad T, Jenkins Dagan, Ahmed Jawad, Santoni Federico A, Ranza Emmanuelle, Iwaszkiewicz Justyna, Cytrynbaum Cheryl, Weksberg Rosanna, Wentzensen Ingrid M, Guillen Sacoto Maria J, Si Yue, Telegrafi Aida, Andrews Marisa V, Baldridge Dustin, Gabriel Heinz, Mohr Julia, Oehl-Jaschkowitz Barbara, Debard Sylvain, Senger Bruno, Fischer Frédéric, van Ravenwaaij Conny, Fock Annemarie J M, Stevens Servi J C, Bähler Jürg, Nasar Amina, Mantovani John F, Manzur Adnan, Sarkozy Anna, Smith Desirée E C, Salomons Gajja S, Ahmed Zubair M, Riazuddin Shaikh, Riazuddin Saima, Usmani Muhammad A, Seibt Annette, Ansar Muhammad, Antonarakis Stylianos E, Vincent John B, Ayub Muhammad, Grimmel Mona, Jelsig Anne Marie, Hjortshøj Tina Duelund, Karstensen Helena Gásdal, Hummel Marybeth, Haack Tobias B, Jamshidi Yalda, Distelmaier Felix, Horvath Rita, Gleeson Joseph G, Becker Hubert, Mandel Jean-Louis, Koolen David A, Houlden Henry

Abstract excerpt

Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families, presenting with microcephaly, neurodevelopmental delay, seizures, peripheral neuropathy, and ataxia, with de novo heterozygous and bi-allelic mutations in asparaginyl-tRNA synthetase (NARS1). We...

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Abstract excerpt

Topics

Related research