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

Publication ,  Journal Article
Stegmann, JD; Kalanithy, JC; Dworschak, GC; Ishorst, N; Mingardo, E; Lopes, FM; Ho, YM; Grote, P; Lindenberg, TT; Yilmaz, Ö; Channab, K ...
Published in: NPJ Genom Med
March 1, 2024
Published version (DOI) Link to item

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.

Duke Scholars

Jennifer L. Cohen
Author Jennifer L. Cohen Pediatrics, Medical Genetics

Published In

NPJ Genom Med

DOI

10.1038/s41525-024-00398-9

EISSN

2056-7944

Publication Date

March 1, 2024

Volume

9

Issue

1

Start / End Page

18

Location

England

Related Subject Headings

  • 3206 Medical biotechnology
  • 3105 Genetics
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Stegmann, J. D., Kalanithy, J. C., Dworschak, G. C., Ishorst, N., Mingardo, E., Lopes, F. M., … Hilger, A. C. (2024). Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med, 9(1), 18. https://doi.org/10.1038/s41525-024-00398-9
Stegmann, Jil D., Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, et al. “Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.” NPJ Genom Med 9, no. 1 (March 1, 2024): 18. https://doi.org/10.1038/s41525-024-00398-9.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, et al. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med. 2024 Mar 1;9(1):18.
Stegmann, Jil D., et al. “Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.” NPJ Genom Med, vol. 9, no. 1, Mar. 2024, p. 18. Pubmed, doi:10.1038/s41525-024-00398-9.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A, TUDP consortium, Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae J-H, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med. 2024 Mar 1;9(1):18.

Published In

NPJ Genom Med

DOI

10.1038/s41525-024-00398-9

EISSN

2056-7944

Publication Date

March 1, 2024

Volume

9

Issue

1

Start / End Page

18

Location

England

Related Subject Headings

  • 3206 Medical biotechnology
  • 3105 Genetics