Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies-Reference-Cited by-同舟云学术

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

Published:2024-03-01 Issue:1 Volume:9 Page:
ISSN:2056-7944
Container-title:npj Genomic Medicine
language:en
Short-container-title:npj Genom. Med.

Author:

Stegmann Jil D.^ORCID,Kalanithy Jeshurun C.,Dworschak Gabriel C.,Ishorst Nina^ORCID,Mingardo Enrico,Lopes Filipa M.,Ho Yee Mang,Grote Phillip^ORCID,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, ,Pinelli Michele,Capra Valeria,Accogli Andrea,Maitz Silvia,Spano Alice,Olson Rory J.,Klee Eric W.^ORCID,Lanpher Brendan C.,Jang Se Song,Chae Jong-Hee,Steinbauer Philipp,Rieder Dietmar,Janecke Andreas R.,Vodopiutz Julia,Vogel Ida^ORCID,Blechingberg Jenny^ORCID,Cohen Jennifer L.,Riley Kacie,Klee Victoria,Walsh Laurence E.,Begemann Matthias^ORCID,Elbracht Miriam,Eggermann Thomas^ORCID,Stoppe Arzu,Stuurman Kyra,van Slegtenhorst Marjon,Barakat Tahsin Stefan^ORCID,Mulhern Maureen S.,Sands Tristan T.,Cytrynbaum Cheryl^ORCID,Weksberg Rosanna^ORCID,Isidori Federica,Pippucci Tommaso,Severi Giulia^ORCID,Montanari Francesca,Kruer Michael C.^ORCID,Bakhtiari Somayeh,Darvish Hossein,Reutter Heiko^ORCID,Hagelueken Gregor,Geyer Matthias,Woolf Adrian S.^ORCID,Posey Jennifer E.^ORCID,Lupski James R.^ORCID,Odermatt Benjamin^ORCID,Hilger Alina C.^ORCID

Abstract

AbstractCELSR3 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.

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41525-024-00398-9.pdf

Reference43 articles.

1. Colin, E. et al. Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. Am. J. Hum. Genet. 95, 637–648 (2014).

2. Heidet, L. et al. Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. J. Am. Soc. Nephrol. JASN 28, 2901–2914 (2017).

3. Connaughton, D. M. et al. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am. J. Hum. Genet. 107, 727–742 (2020).

4. Wang, X.-J. et al. Understanding cadherin EGF LAG seven-pass G-type receptors. J. Neurochem. 131, 699–711 (2014).

5. Goffinet, A. M. & Tissir, F. Seven pass Cadherins CELSR1-3. Semin. Cell Dev. Biol. 69, 102–110 (2017).

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