Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
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ABSTRACT:
SUBMITTER: Stegmann JD
PROVIDER: S-EPMC10907620 | biostudies-literature | 2024 Mar
REPOSITORIES: biostudies-literature
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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann Jil D JD Kalanithy Jeshurun C JC Dworschak Gabriel C GC Ishorst Nina N Mingardo Enrico E Lopes Filipa M FM Ho Yee Mang YM Grote Phillip P Lindenberg Tobias T TT Yilmaz Öznur Ö Channab Khadija K Seltzsam Steve S Shril Shirlee S Hildebrandt Friedhelm F Boschann Felix F Heinen André A Jolly Angad A Myers Katherine K McBride Kim K Bekheirnia Mir Reza MR Bekheirnia Nasim N Scala Marcello M Morleo Manuela M Nigro Vincenzo V Torella Annalaura A Pinelli Michele M Capra Valeria V Accogli Andrea A Maitz Silvia S Spano Alice A Olson Rory J RJ Klee Eric W EW Lanpher Brendan C BC Jang Se Song SS Chae Jong-Hee JH Steinbauer Philipp P Rieder Dietmar D Janecke Andreas R AR Vodopiutz Julia J Vogel Ida I Blechingberg Jenny J Cohen Jennifer L JL Riley Kacie K Klee Victoria V Walsh Laurence E LE Begemann Matthias M Elbracht Miriam M Eggermann Thomas T Stoppe Arzu A Stuurman Kyra K van Slegtenhorst Marjon M Barakat Tahsin Stefan TS Mulhern Maureen S MS Sands Tristan T TT Cytrynbaum Cheryl C Weksberg Rosanna R Isidori Federica F Pippucci Tommaso T Severi Giulia G Montanari Francesca F Kruer Michael C MC Bakhtiari Somayeh S Darvish Hossein H Reutter Heiko H Hagelueken Gregor G Geyer Matthias M Woolf Adrian S AS Posey Jennifer E JE Lupski James R JR Odermatt Benjamin B Hilger Alina C AC
NPJ genomic medicine 20240301 1
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 v ...[more]
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