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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...

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Autores principales: Abreu, Maria, Branco, Tiago, Figueiroa, Sónia, Reis, Cláudia Falcão
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
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.
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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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