Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants.

Détails

Ressource 1Télécharger: genes-12-01397.pdf (591.95 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_14ADEBC9C07B
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants.
Périodique
Genes
Auteur⸱e⸱s
Lebon S., Quinodoz M., Peter V.G., Gengler C., Blanchard G., Cina V., Campos-Xavier B., Rivolta C., Superti-Furga A.
ISSN
2073-4425 (Electronic)
ISSN-L
2073-4425
Statut éditorial
Publié
Date de publication
10/09/2021
Peer-reviewed
Oui
Volume
12
Numéro
9
Pages
1397
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: epublish
Résumé
We studied a family in which the first-born child, a girl, had developmental delay, facial dysmorphism, and agenesis of the corpus callosum (ACC). The subsequent pregnancy was interrupted as the fetus was found to be also affected by ACC. Both cases were heterozygous for two KDM5B variants predicting p (Ala635Thr) and p (Ser1155AlafsTer4) that were shown to be in trans. KDM5B variants have been previously associated with moderate to severe developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and dysmorphism in a few individuals, but the pathogenetic mechanisms are not clear yet as patients with both monoallelic and biallelic variants have been observed. Interestingly, one individual has previously been reported with ACC and severe ID in association with biallelic KDM5B variants. Together with the observations in this family, this suggests that agenesis of the corpus callosum may be part of the phenotypic spectrum associated with KDM5B variants and that the KDM5B gene should be included in gene panels to clarify the etiology of ACC both in the prenatal and postnatal setting.
Mots-clé
Abortion, Eugenic, Agenesis of Corpus Callosum/complications, Agenesis of Corpus Callosum/diagnosis, Agenesis of Corpus Callosum/genetics, Child, Preschool, Developmental Disabilities/complications, Developmental Disabilities/genetics, Facial Asymmetry/complications, Facial Asymmetry/genetics, Family, Female, Fetal Diseases/diagnosis, Fetal Diseases/genetics, Heterozygote, Humans, Intellectual Disability/complications, Intellectual Disability/diagnosis, Intellectual Disability/genetics, Jumonji Domain-Containing Histone Demethylases/genetics, Mutation, Missense, Nuclear Proteins/genetics, Pedigree, Pregnancy, Repressor Proteins/genetics, Siblings, Switzerland, KDM5B, corpus callosum agenesis
Pubmed
Web of science
Open Access
Oui
Création de la notice
29/09/2021 14:43
Dernière modification de la notice
16/09/2023 7:08
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