Journal
GENES
Volume 12, Issue 9, Pages -Publisher
MDPI
DOI: 10.3390/genes12091397
Keywords
corpus callosum agenesis; KDM5B
Categories
Funding
- Fondation Guillaume Gentil
Ask authors/readers for more resources
The study found that KDM5B gene variants may be associated with developmental delay, autism spectrum disorders, and facial dysmorphism. It is noteworthy that these variants may also lead to agenesis of the corpus callosum, indicating that the KDM5B gene should be included in gene panels to clarify the etiology of ACC.
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available