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Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling–case report
Intellectual development disorder, autosomal dominant 43 (MRD43) is an autosomal dominant disorder caused by heterozygous mutations in the HIVEP2 gene. In this report, we describe a case of a 4-year-old boy with global development delay, hypotonia, and dysmorphic features, in whom the finding of a h...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10333530/ https://www.ncbi.nlm.nih.gov/pubmed/37441550 http://dx.doi.org/10.3389/fgene.2023.1156847 |
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author | Abreu, Maria Branco, Tiago Figueiroa, Sónia Reis, Cláudia Falcão |
author_facet | Abreu, Maria Branco, Tiago Figueiroa, Sónia Reis, Cláudia Falcão |
author_sort | Abreu, Maria |
collection | PubMed |
description | Intellectual development disorder, autosomal dominant 43 (MRD43) is an autosomal dominant disorder caused by heterozygous mutations in the HIVEP2 gene. In this report, we describe a case of a 4-year-old boy with global development delay, hypotonia, and dysmorphic features, in whom the finding of a heterozygous nonsense pathogenic variant in exon 5 of HIVEP2 [c.2827C>T p. (Arg943*)] through WES established a MRD43 diagnosis. Our patient’s phenotype overlaps with other MRD43 descriptions in the literature. Unlike previously reported cases, where the condition was almost invariably de novo, the healthy mother in this case presented mosaicism for the pathogenic variant. Thus, the recurrence risk increased significantly from 1% to up to 50%. The description of a variant inherited for MDR43 is singular in the literature and this description highlights the importance of parental studies for accurate genetic counseling, particularly for family planning. |
format | Online Article Text |
id | pubmed-10333530 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-103335302023-07-12 Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling–case report Abreu, Maria Branco, Tiago Figueiroa, Sónia Reis, Cláudia Falcão Front Genet Genetics Intellectual development disorder, autosomal dominant 43 (MRD43) is an autosomal dominant disorder caused by heterozygous mutations in the HIVEP2 gene. In this report, we describe a case of a 4-year-old boy with global development delay, hypotonia, and dysmorphic features, in whom the finding of a heterozygous nonsense pathogenic variant in exon 5 of HIVEP2 [c.2827C>T p. (Arg943*)] through WES established a MRD43 diagnosis. Our patient’s phenotype overlaps with other MRD43 descriptions in the literature. Unlike previously reported cases, where the condition was almost invariably de novo, the healthy mother in this case presented mosaicism for the pathogenic variant. Thus, the recurrence risk increased significantly from 1% to up to 50%. The description of a variant inherited for MDR43 is singular in the literature and this description highlights the importance of parental studies for accurate genetic counseling, particularly for family planning. Frontiers Media S.A. 2023-06-27 /pmc/articles/PMC10333530/ /pubmed/37441550 http://dx.doi.org/10.3389/fgene.2023.1156847 Text en Copyright © 2023 Abreu, Branco, Figueiroa and Reis. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Abreu, Maria Branco, Tiago Figueiroa, Sónia Reis, Cláudia Falcão Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling–case report |
title | Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling–case report |
title_full | Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling–case report |
title_fullStr | Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling–case report |
title_full_unstemmed | Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling–case report |
title_short | Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling–case report |
title_sort | parental gonadossomatic mosaicism in hivep2-related intellectual disability and impact on genetic counseling–case report |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10333530/ https://www.ncbi.nlm.nih.gov/pubmed/37441550 http://dx.doi.org/10.3389/fgene.2023.1156847 |
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