Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Autor: Rots, Dmitrijs ^{1, 2, 3, 88}, Choufani, Sanaa ^{4, 88}, Faundes, Victor ^{5, 87, 88}, Dingemans, Alexander J.M. ¹, Joss, Shelagh ⁶, Foulds, Nicola ⁷, Jones, Elizabeth A. ^{8, 9}, Stewart, Sarah ⁸, Vasudevan, Pradeep ¹⁰, Dabir, Tabib ¹¹, Park, Soo-Mi ¹², Jewell, Rosalyn ¹³, Brown, Natasha ^{14, 15}, Pais, Lynn ^{16, 17}, Jacquemont, Sébastien ¹⁸, Jizi, Khadijé ¹⁹, Ravenswaaij-Arts, Conny M.A. van ²⁰, Kroes, Hester Y. ²¹, Stumpel, Constance T.R. M. ^{22, 23}, Ockeloen, Charlotte W. ¹, Diets, Illja J. ¹, Nizon, Mathilde ²⁴, Vincent, Marie ²⁴, Cogné, Benjamin ²⁴, Besnard, Thomas ²⁴, Kambouris, Marios ²⁵, Anderson, Emily ²⁶, Zackai, Elaine H. ²⁷, McDougall, Carey ²⁸, Donoghue, Sarah ²⁸, O'Donnell-Luria, Anne ^{16, 17}, Valivullah, Zaheer ¹⁶, O'Leary, Melanie ^{16, 29}, Srivastava, Siddharth ³⁰, Byers, Heather ³¹, Leslie, Nancy ³², Mazzola, Sarah ³³, Tiller, George E. ³⁴, Vera, Moin ³⁴, Shen, Joseph J. ^{35, 36}, Boles, Richard ³⁷, Jain, Vani ³⁸, Brischoux-Boucher, Elise ³⁹, Kinning, Esther ⁴⁰, Simpson, Brittany N. ⁴¹, Giltay, Jacques C. ²¹, Harris, Jacqueline ^{42, 43}, Keren, Boris ⁴⁴, Guimier, Anne ⁴⁵, Marijon, Pierre ⁴⁶, Vries, Bert B.A. de ¹, Motter, Constance S. ⁴⁷, Mendelsohn, Bryce A. ⁴⁸, Coffino, Samantha ⁴⁹, Gerkes, Erica H. ⁵⁰, Afenjar, Alexandra ⁵¹, Visconti, Paola ⁵², Bacchelli, Elena ⁵³, Maestrini, Elena ⁵³, Delahaye-Duriez, Andree ⁵⁴, Gooch, Catherine ⁵⁵, Hendriks, Yvonne ⁵⁶, Adams, Hieab ^{1, 2}, Thauvin-Robinet, Christel ^{57, 58, 59}, Josephi-Taylor, Sarah ^{60, 61}, Bertoli, Marta ⁶², Parker, Michael J. ⁶³, Rutten, Julie W. ⁵⁶, Caluseriu, Oana ⁶⁴, Vernon, Hilary J. ⁶⁵, Kaziyev, Jonah ¹⁷, Zhu, Jia ¹⁷, Kremen, Jessica ⁶⁶, Frazier, Zoe ⁶⁷, Osika, Hailey ⁶⁷, Breault, David ¹⁷, Nair, Sreelata ⁶⁸, Lewis, Suzanne M.E. ⁶⁹, Ceroni, Fabiola ^{53, 70}, Viggiano, Marta ⁵³, Posar, Annio ^{52, 71}, Brittain, Helen ⁷², Giovanna, Traficante ⁷³, Giulia, Gori ⁷⁴, Quteineh, Lina ⁷⁵, Ha-Vinh Leuchter, Russia ⁷⁶, Zonneveld-Huijssoon, Evelien ⁷⁷, Mellado, Cecilia ⁷⁸, Marey, Isabelle ⁷⁹, Coudert, Alicia ⁷⁹, Aracena Alvarez, Mariana Inés ⁸⁰, Kennis, Milou G.P. ¹, Bouman, Arianne ¹, Roifman, Maian ⁸¹, Amorós Rodríguez, María Inmaculada ⁸², Ortigoza-Escobar, Juan Dario ⁸³, Vernimmen, Vivian ^{22, 23}, Sinnema, Margje ²², Pfundt, Rolph ¹, Brunner, Han G. ^{1, 22}, Vissers, Lisenka E.L.M. ^{1, 84}, Kleefstra, Tjitske ^{1, 2, 85, 89, ∗}, Weksberg, Rosanna ^{4, 86, 89, ∗∗}, Banka, Siddharth ^{8, 87, 89}

Publikováno v: In The American Journal of Human Genetics 8 August 2024 111(8):1626-1642

Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome

Autor: Ramond, Francis ^{1, ∗}, Dalgliesh, Caroline ², Grimmel, Mona ³, Wechsberg, Oded ^{4, 5}, Vetro, Annalisa ⁶, Guerrini, Renzo ⁶, FitzPatrick, David ⁷, Poole, Rebecca L. ⁸, Lebrun, Marine ¹, Bayat, Allan ^{9, 10}, Grasshoff, Ute ³, Bertrand, Miriam ³, Witt, Dennis ³, Turnpenny, Peter D. ¹¹, Faundes, Víctor ¹², Santa María, Lorena ¹², Mendoza Fuentes, Carolina ¹³, Mabe, Paulina ¹⁴, Hussain, Shaun A. ¹⁵, Mullegama, Sureni V. ¹⁶, Torti, Erin ¹⁶, Oehl-Jaschkowitz, Barbara ¹⁷, Salmon, Lina Basel ^{4, 18, 19, 20}, Orenstein, Naama ^{4, 18}, Shahar, Noa Ruhrman ¹⁹, Hagari, Ofir ¹⁹, Bazak, Lily ¹⁹, Hoffjan, Sabine ²¹, Prada, Carlos E. ^{22, 23}, Haack, Tobias ^{3, 24}, Elliott, David J. ^{2, ∗∗}

Publikováno v: In Genetics in Medicine April 2023 25(4)

A case of diffuse kidney hyperechogenicity in early childhood associated with biallelic PKHD1 variants.

Autor: Krall, Paola, Faundes, Víctor, Gálvez, Carla, Cavagnaro, Felipe

Publikováno v: Pediatric Nephrology; Sep2024, Vol. 39 Issue 9, p2633-2636, 4p

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