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Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants
- Source :
- Genes, Vol 12, Iss 1397, p 1397 (2021)
- Publication Year :
- 2021
- Publisher :
- MDPI AG, 2021.
-
Abstract
- 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.
- Subjects :
- Pediatrics
medicine.medical_specialty
Fetus
Corpus Callosum Agenesis
business.industry
QH426-470
Compound heterozygosity
medicine.disease
corpus callosum agenesis
Facial dysmorphism
nervous system
KDM5B
Intellectual disability
Genetics
medicine
Etiology
Autism
Agenesis of the corpus callosum
business
Genetics (clinical)
Subjects
Details
- ISSN :
- 20734425
- Volume :
- 12
- Database :
- OpenAIRE
- Journal :
- Genes
- Accession number :
- edsair.doi.dedup.....c1e0a260fadbb9509f3097c1105d495c