Article
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
American journal of human genetics - 4 Jan 2024
Salpietro Vincenzo, Maroofian Reza, Zaki Maha S, Wangen Jamie, Ciolfi Andrea, Barresi Sabina, Efthymiou Stephanie, Lamaze Angelique, Aughey Gabriel N, Al Mutairi Fuad, Rad Aboulfazl, Rocca Clarissa, Calì Elisa, Accogli Andrea, Zara Federico, Striano Pasquale, Mojarrad Majid, Tariq Huma, Giacopuzzi Edoardo, Taylor Jenny C, Oprea Gabriela, Skrahina Volha, Rehman Khalil Ur, Abd Elmaksoud Marwa, Bassiony Mahmoud, El Said Huda G, Abdel-Hamid Mohamed S, Al Shalan Maha, Seo Gohun, Kim Sohyun, Lee Hane, Khang Rin, Issa Mahmoud Y, Elbendary Hasnaa M, Rafat Karima, Marinakis Nikolaos M, Traeger-Synodinos Joanne, Ververi Athina, Sourmpi Mara, Eslahi Atieh, Khadivi Zand Farhad, Beiraghi Toosi Mehran, Babaei Meisam, Jackson Adam, Bertoli-Avella Aida, Pagnamenta Alistair T, Niceta Marcello, Battini Roberta, Corsello Antonio, Leoni Chiara, Chiarelli Francesco, Dallapiccola Bruno, Faqeih Eissa Ali, Tallur Krishnaraya K, Alfadhel Majid, Alobeid Eman, Maddirevula Sateesh, Mankad Kshitij, Banka Siddharth, Ghayoor-Karimiani Ehsan, Tartaglia Marco, Chung Wendy K, Green Rachel, Alkuraya Fowzan S, Jepson James E C, Houlden Henry
Abstract excerpt
The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked to GTPBP1. Here, we describe individuals carrying bi-allelic GTPBP1 variants that display an identical phenotype...
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