Titre :

Expanding the KIF4A-associated phenotype

Auteur(s) :

Kalantari, Silvia [Auteur]
University Hospital Basel [Basel]
Carlston, Colleen [Auteur]
Boston Children's Hospital
Alsaleh, Norah [Auteur]
Abdel-Salam, Ghada M. H. [Auteur]
National Research Centre [Giza, Egypt]
Alkuraya, Fowzan [Auteur]
King Faisal Specialist Hospital and Resarch Centre [Riyadh, Saudi Arabia] [KFSHRC]
Kato, Mitsuhiro [Auteur]
Matsumoto, Naomichi [Auteur]
Yokohama City University [YCU]
Miyatake, Satoko [Auteur]
Yokohama City University [YCU]
Yamamoto, Tatsuya [Auteur]
Hirosaki University
Fares-Taie, Lucas [Auteur]
Imagine - Institut des maladies génétiques (IHU) [Imagine - U1163]
Rozet, Jean-Michel [Auteur]
Imagine - Institut des maladies génétiques (IHU) [Imagine - U1163]
Chassaing, Nicolas [Auteur]
Centre Hospitalier Universitaire de Toulouse [CHU Toulouse]
Vincent, Catherine [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Kang-Bellin, Anjeung [Auteur]
Mcwalter, Kirsty [Auteur]
GeneDx [Gaithersburg, MD, USA]
Bupp, Caleb [Auteur]
Spectrum Health [Grand Rapids]
Palen, Emily [Auteur]
Geisinger Autism & Developmental Medicine Institute [Danville, PA, USA] [ADMI]
Wagner, Monisa D. [Auteur]
Geisinger Autism & Developmental Medicine Institute [Danville, PA, USA] [ADMI]
Niceta, Marcello [Auteur]
IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital
Cesario, Claudia [Auteur]
IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital
Milone, Roberta [Auteur]
IRCCS Fondazione Stella Maris [Pisa]
Kaplan, Julie [Auteur]
Nemours/Alfred I. du Pont Hospital for Children
Wadman, Erin [Auteur]
Nemours/Alfred I. du Pont Hospital for Children
Dobyns, William B. [Auteur]
University of Minnesota System [UMN]
Filges, Isabel [Auteur]
Université de Bâle = University of Basel = Basel Universität [Unibas]
University Hospital Basel [Basel]

Titre de la revue :

American Journal of Medical Genetics Part A

Nom court de la revue :

Am J Med Genet A

Numéro :

185

Pagination :

3728-3739

Éditeur :

Wiley

Date de publication :

2021-08-03

ISSN :

1552-4833

Mot(s)-clé(s) en anglais :

brain anomalies
hydrocephalus
intellectual disability
KIF4A
kinesinopathies
kinesins

Discipline(s) HAL :

Sciences du Vivant [q-bio]

Résumé en anglais : [en]

Kinesin super family (KIF) genes encode motor kinesins, a family of evolutionary conserved proteins, involved in intracellular trafficking of various cargoes. These proteins are critical for various physiological processes ...
Lire la suite >Kinesin super family (KIF) genes encode motor kinesins, a family of evolutionary conserved proteins, involved in intracellular trafficking of various cargoes. These proteins are critical for various physiological processes including neuron function and survival, ciliary function and ciliogenesis, and cell-cycle progression. Recent evidence suggests that alterations in motor kinesin genes can lead to a variety of human diseases, including monogenic disorders. Neuropathies, impaired higher brain functions, structural brain abnormalities and multiple congenital anomalies (i.e., renal, urogenital, and limb anomalies) can result from pathogenic variants in many KIF genes. We expand the phenotype associated with KIF4A variants from developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end of phenotypic manifestations. Additional anomalies of the kidneys and urinary tract, congenital lymphedema, eye, and dental anomalies seem to be variably associated and overlap with clinical signs observed in other kinesinopathies. Caution still applies to missense variants, but hopefully, future work will further establish genotype–phenotype correlations in a larger number of patients and functional studies may give further insights into the complex function of KIF4A.Lire moins >

Langue :

Anglais

Comité de lecture :

Oui

Audience :

Internationale

Vulgarisation :

Non

Établissement(s) :

Université de Lille
CHU Lille

Collections :

• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Date de dépôt :

2024-06-25T21:49:26Z
2024-10-29T10:02:49Z