Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Küry, S., Zhang, J., Besnard, T., Caro-Llopis, A., Zeng, X., Robert, S. M., Josiah, S. S., Kiziltug, E., Denommé-Pichon, A.-S., Cogné, B., Kundishora, A. J., Hao, L. T., Li, H., Stevenson, R. E., Louie, R. J., Deb, W., Torti, E., Vignard, V., McWalter, K., … Isidor, B. (2022). Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genetics in Medicine, 24(9), 1941–1951. https://doi.org/10.1016/j.gim.2022.05.009

Authors:

Sébastien Küry

Jinwei Zhang

Thomas Besnard

Alfonso Caro-Llopis

Xue Zeng

Stephanie M Robert

Sunday S Josiah

Emre Kiziltug

Anne-Sophie Denommé-Pichon

Benjamin Cogné

Adam J Kundishora

Le T Hao

Hong Li

Roger E Stevenson

Raymond J Louie

Wallid Deb

Erin Torti

Virginie Vignard

Kirsty McWalter

F Lucy Raymond

Farrah Rajabi

Emmanuelle Ranza

Detelina Grozeva

Stephanie A Coury

Xavier Blanc

Elise Brischoux-Boucher

Boris Keren

Katrin Õunap

Karit Reinson

Pilvi Ilves

Ingrid M Wentzensen

Eileen E Barr

Solveig Heide Guihard

Perrine Charles

Eleanor G Seaby

Kristin G Monaghan

Marlène Rio

Yolande van Bever

Marjon van Slegtenhorst

Wendy K Chung

Ashley Wilson

Delphine Quinquis

Flora Bréhéret

Kyle Retterer

Pierre Lindenbaum

Emmanuel Scalais

Lindsay Rhodes

Katrien Stouffs

Elaine M Pereira

Sara M Berger

Sarah S Milla

Ankita B Jaykumar

Melanie H Cobb

Shreyas Panchagnula

Phan Q Duy

Marie Vincent

Sandra Mercier

Brigitte Gilbert-Dussardier

Xavier Le Guillou

Séverine Audebert-Bellanger

Sylvie Odent

Sébastien Schmitt

Pierre Boisseau

Dominique Bonneau

Annick Toutain

Estelle Colin

Laurent Pasquier

Richard Redon

Arjan Bouman

Jill A Rosenfeld

Michael J Friez

Helena Pérez-Peña

Syed Raza Akhtar Rizvi

Shozeb Haider

Stylianos E Antonarakis

Charles E Schwartz

Francisco Martínez

Stéphane Bézieau

Kristopher T Kahle

Bertrand Isidor

Affiliated Authors:

Wendy K Chung

Ashley Wilson

Elaine M Pereira

Sara M Berger

Columbia Affiliation:

Vagelos College of Physicians and Surgeons
- Department of Pediatrics
  Division of Clinical Genetics
- Department of Medicine

Subjects:

Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)

Molecular Mechanisms of Aquaporins in Physiology and Disease (OpenAlex Topic)

Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)

Mental Retardation, X-Linked (MeSH)

Protein Serine-Threonine Kinases (MeSH)

Symporters (MeSH)

Author Keywords:

exome sequencing

kcc2

neurodevelopmental disease

wnk3

x-linked intellectual disability

elink

Publication Type:

Article

Unique ID:

10.1016/j.gim.2022.05.009

PMID:

35678782

DOI:

10.1016/j.gim.2022.05.009

Journal:

Genetics in Medicine

Publication Date:

2022-09-01

Data Source:

PubMed

Source Link:

View PubMed Record

View Scopus Record

View Web of Science Record

View OpenAlex Record

Record Created:

Wednesday, October 30, 2024 - 11:04