Article
The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.
Genome medicine - 22 Aug 2026
Tibbe Debora, Kiel Christina, Ielesicheva Olena, Robles de Maruri Kerstin, Mahboobi Helia, Züghart Joschka, Hönck Hans-Hinrich, Meier Christoph, Biasella Fabiola, Legüe Marcela, Lopez Avaria María Francisca, Blair Edward, Lester Tracy, Banos-Pinero Benito, Pulido Jose S, Schneider Adele, Procopio Rebecca, Quelin Chloe, Leal Bailey J, Martinez-Agosto Julian A, Bottomley Stephanie A, Till Ágnes, Hadzsiev Kinga, Szalai Renata, Weaver Kathryn Nicole, Fluss Joel, Margot Henri, Almoguera Berta, Lorda-Sánchez Isabel, López-López Lucía, Hamm J Austin, Goel Himanshu, Alanay Yasemin, Akgun Doğan Ozlem, Ozkose-Iyigel Gulşah Şebnem, Baujat Genevieve, Lesieur-Sebellin Marion, Rondeau Sophie, Schon Katherine, Christopher Joseph, Isidor Bertrand, Cogne Benjamin, Agrawal Neena S, Dahlhauser Ryan, Furuta Yutaka, Rabin Rachel, Pappas John, Patel Chirag, Järvelä Irma, Rauhala Merja, Schrauwen Isabelle, Leal Suzanne M, Banka Siddharth, Tharakan Riya, Pebrel-Richard Céline, Laffargue Fanny, Durand Nelly, Celse Tristan, Hempel Maja, Valentin Ilia, Gregorova Andrea, Noskova Lenka, Baumgartner Sara, Überbacher Christa, Muru Kai, Murumets Ülle, Lilles Stella, Steindl Katharina, Rauch Anita, Ruscitti Federica, Verloes Alain, Levy Jonathan, Park Joohyun, Haack Tobias B, Bader Ingrid, Julia Sophie, Banneau Guillaume, Muir Alison M, Lessel Davor, Kreienkamp Hans-Jürgen
Abstract excerpt
BACKGROUND: Pathogenic variants in AGO2, encoding a central component of the RNA-induced silencing complex (RISC), cause the neurodevelopmental disorder Lessel-Kreienkamp syndrome (LESKRES). The variant spectrum and associated molecular mechanisms underlying phenotypic variability and disease severity remain incompletely understood. METHODS: We investigated 45 newly identified individuals carrying 33 distinct...
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