NPJ genomic medicine · 2024

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

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Stegmann Jil D, Kalanithy Jeshurun C, Dworschak Gabriel C, Ishorst Nina, Mingardo Enrico, Lopes Filipa M, Ho Yee Mang, Grote Phillip, Lindenberg Tobias T, Yilmaz Öznur, Channab Khadija, Seltzsam Steve, Shril Shirlee, Hildebrandt Friedhelm, Boschann Felix, Heinen André, Jolly Angad, Myers Katherine, McBride Kim, Bekheirnia Mir Reza, Bekheirnia Nasim, Scala Marcello, Morleo Manuela, Nigro Vincenzo, Torella Annalaura, TUDP consortium, Pinelli Michele, Capra Valeria, Accogli Andrea, Maitz Silvia, Spano Alice, Olson Rory J, Klee Eric W, Lanpher Brendan C, Jang Se Song, Chae Jong-Hee, Steinbauer Philipp, Rieder Dietmar, Janecke Andreas R, Vodopiutz Julia, Vogel Ida, Blechingberg Jenny, Cohen Jennifer L, Riley Kacie, Klee Victoria, Walsh Laurence E, Begemann Matthias, Elbracht Miriam, Eggermann Thomas, Stoppe Arzu, Stuurman Kyra, van Slegtenhorst Marjon, Barakat Tahsin Stefan, Mulhern Maureen S, Sands Tristan T, Cytrynbaum Cheryl, Weksberg Rosanna, Isidori Federica, Pippucci Tommaso, Severi Giulia, Montanari Francesca, Kruer Michael C, Bakhtiari Somayeh, Darvish Hossein, Reutter Heiko, Hagelueken Gregor, Geyer Matthias, Woolf Adrian S, Posey Jennifer E, Lupski James R, Odermatt Benjamin, Hilger Alina C

Аннотация

CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12). Computational simulation of the 3D protein structure suggests the position of the identified variants to be implicated in penetrance and phenotype expression. CELSR3 immunolocalization in human embryonic urinary tract and transient suppression and rescue experiments of Celsr3 in fluorescent zebrafish reporter lines further support an embryonic role of CELSR3 in CNS and urinary tract formation.

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

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Аннотация