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Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene

PIEZO2 protein is a unique ion channel that converts mechanical impulses into cellular signals in somatosensory neurons and is involved in various mechanotransduction pathways. The recessive PIEZO2 loss-of-function pathogenic variants are associated with distal arthrogryposis with impaired proprioce...

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Autores principales: Klaniewska, Magdalena, Jedrzejowska, Maria, Rydzanicz, Malgorzata, Paprocka, Justyna, Biela, Mateusz, Wolanska, Ewelina, Pollak, Agnieszka, Debek, Emilia, Sasiadek, Maria, Ploski, Rafal, Gos, Monika, Smigiel, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8113815/
https://www.ncbi.nlm.nih.gov/pubmed/33995476
http://dx.doi.org/10.3389/fgene.2021.620752
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author Klaniewska, Magdalena
Jedrzejowska, Maria
Rydzanicz, Malgorzata
Paprocka, Justyna
Biela, Mateusz
Wolanska, Ewelina
Pollak, Agnieszka
Debek, Emilia
Sasiadek, Maria
Ploski, Rafal
Gos, Monika
Smigiel, Robert
author_facet Klaniewska, Magdalena
Jedrzejowska, Maria
Rydzanicz, Malgorzata
Paprocka, Justyna
Biela, Mateusz
Wolanska, Ewelina
Pollak, Agnieszka
Debek, Emilia
Sasiadek, Maria
Ploski, Rafal
Gos, Monika
Smigiel, Robert
author_sort Klaniewska, Magdalena
collection PubMed
description PIEZO2 protein is a unique ion channel that converts mechanical impulses into cellular signals in somatosensory neurons and is involved in various mechanotransduction pathways. The recessive PIEZO2 loss-of-function pathogenic variants are associated with distal arthrogryposis with impaired proprioception and touch (DAIPT). Here we present three new DAIPT patients. The genetic diagnosis was established by exome sequencing and let us to identify 6 novel loss-of-function PIEZO2 variants: four splicing (c.1080+1G>A, c.4092+1G>T, c.6355+1G>T, and c.7613+1G>A), one nonsense (c.6088C>T) and one frameshift variant (c.6175_6191del) for which mosaic variant was identified in proband's mother. All patients presented typical symptoms at birth, with congenital contractures, bilateral hip dislocation/dysplasia, generalized hypotonia, transient feeding and difficulties. Two were afflicted by transient respiratory insufficiency. In all children motor development was severely delayed. In one patient, severe cognitive delay was also observed. Moreover, among the cases described by us there is the youngest diagnosed child to date.
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spelling pubmed-81138152021-05-13 Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene Klaniewska, Magdalena Jedrzejowska, Maria Rydzanicz, Malgorzata Paprocka, Justyna Biela, Mateusz Wolanska, Ewelina Pollak, Agnieszka Debek, Emilia Sasiadek, Maria Ploski, Rafal Gos, Monika Smigiel, Robert Front Genet Genetics PIEZO2 protein is a unique ion channel that converts mechanical impulses into cellular signals in somatosensory neurons and is involved in various mechanotransduction pathways. The recessive PIEZO2 loss-of-function pathogenic variants are associated with distal arthrogryposis with impaired proprioception and touch (DAIPT). Here we present three new DAIPT patients. The genetic diagnosis was established by exome sequencing and let us to identify 6 novel loss-of-function PIEZO2 variants: four splicing (c.1080+1G>A, c.4092+1G>T, c.6355+1G>T, and c.7613+1G>A), one nonsense (c.6088C>T) and one frameshift variant (c.6175_6191del) for which mosaic variant was identified in proband's mother. All patients presented typical symptoms at birth, with congenital contractures, bilateral hip dislocation/dysplasia, generalized hypotonia, transient feeding and difficulties. Two were afflicted by transient respiratory insufficiency. In all children motor development was severely delayed. In one patient, severe cognitive delay was also observed. Moreover, among the cases described by us there is the youngest diagnosed child to date. Frontiers Media S.A. 2021-04-28 /pmc/articles/PMC8113815/ /pubmed/33995476 http://dx.doi.org/10.3389/fgene.2021.620752 Text en Copyright © 2021 Klaniewska, Jedrzejowska, Rydzanicz, Paprocka, Biela, Wolanska, Pollak, Debek, Sasiadek, Ploski, Gos and Smigiel. 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
Klaniewska, Magdalena
Jedrzejowska, Maria
Rydzanicz, Malgorzata
Paprocka, Justyna
Biela, Mateusz
Wolanska, Ewelina
Pollak, Agnieszka
Debek, Emilia
Sasiadek, Maria
Ploski, Rafal
Gos, Monika
Smigiel, Robert
Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene
title Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene
title_full Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene
title_fullStr Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene
title_full_unstemmed Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene
title_short Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene
title_sort case report: further delineation of neurological symptoms in young children caused by compound heterozygous mutation in the piezo2 gene
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8113815/
https://www.ncbi.nlm.nih.gov/pubmed/33995476
http://dx.doi.org/10.3389/fgene.2021.620752
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