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Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants
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 predictin...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8467522/ https://www.ncbi.nlm.nih.gov/pubmed/34573379 http://dx.doi.org/10.3390/genes12091397 |
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author | Lebon, Sébastien Quinodoz, Mathieu Peter, Virginie G. Gengler, Carole Blanchard, Gaëlle Cina, Viviane Campos-Xavier, Belinda Rivolta, Carlo Superti-Furga, Andrea |
author_facet | Lebon, Sébastien Quinodoz, Mathieu Peter, Virginie G. Gengler, Carole Blanchard, Gaëlle Cina, Viviane Campos-Xavier, Belinda Rivolta, Carlo Superti-Furga, Andrea |
author_sort | Lebon, Sébastien |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8467522 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-84675222021-09-27 Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants Lebon, Sébastien Quinodoz, Mathieu Peter, Virginie G. Gengler, Carole Blanchard, Gaëlle Cina, Viviane Campos-Xavier, Belinda Rivolta, Carlo Superti-Furga, Andrea Genes (Basel) Case Report 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. MDPI 2021-09-10 /pmc/articles/PMC8467522/ /pubmed/34573379 http://dx.doi.org/10.3390/genes12091397 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Lebon, Sébastien Quinodoz, Mathieu Peter, Virginie G. Gengler, Carole Blanchard, Gaëlle Cina, Viviane Campos-Xavier, Belinda Rivolta, Carlo Superti-Furga, Andrea Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants |
title | Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants |
title_full | Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants |
title_fullStr | Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants |
title_full_unstemmed | Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants |
title_short | Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants |
title_sort | agenesis of the corpus callosum with facial dysmorphism and intellectual disability in sibs associated with compound heterozygous kdm5b variants |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8467522/ https://www.ncbi.nlm.nih.gov/pubmed/34573379 http://dx.doi.org/10.3390/genes12091397 |
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