Cargando…

IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain

Pathogenic variants in IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause a variety of neurodevelopmental disorders, with intellectual disability as a uniform feature. We report five cases, each with a novel missense variant in the pleckstrin homology (PH) domain of the IQSEC2 protein...

Descripción completa

Detalles Bibliográficos
Autores principales: Shoubridge, Cheryl, Dudding‐Byth, Tracy, Pasquier, Laurent, Goel, Himanshu, Yap, Patrick, McConnell, Vivienne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9325495/
https://www.ncbi.nlm.nih.gov/pubmed/35347702
http://dx.doi.org/10.1111/cge.14136
_version_ 1784757066051616768
author Shoubridge, Cheryl
Dudding‐Byth, Tracy
Pasquier, Laurent
Goel, Himanshu
Yap, Patrick
McConnell, Vivienne
author_facet Shoubridge, Cheryl
Dudding‐Byth, Tracy
Pasquier, Laurent
Goel, Himanshu
Yap, Patrick
McConnell, Vivienne
author_sort Shoubridge, Cheryl
collection PubMed
description Pathogenic variants in IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause a variety of neurodevelopmental disorders, with intellectual disability as a uniform feature. We report five cases, each with a novel missense variant in the pleckstrin homology (PH) domain of the IQSEC2 protein. Male patients all present with moderate to profound intellectual disability, significant delays or absent language and speech and variable seizures. We describe the phenotypic spectrum associated with missense variants in PH domain of IQSEC2, further delineating the genotype–phenotype correlation for this X‐linked gene.
format Online
Article
Text
id pubmed-9325495
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Blackwell Publishing Ltd
record_format MEDLINE/PubMed
spelling pubmed-93254952022-07-30 IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain Shoubridge, Cheryl Dudding‐Byth, Tracy Pasquier, Laurent Goel, Himanshu Yap, Patrick McConnell, Vivienne Clin Genet Short Reports Pathogenic variants in IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause a variety of neurodevelopmental disorders, with intellectual disability as a uniform feature. We report five cases, each with a novel missense variant in the pleckstrin homology (PH) domain of the IQSEC2 protein. Male patients all present with moderate to profound intellectual disability, significant delays or absent language and speech and variable seizures. We describe the phenotypic spectrum associated with missense variants in PH domain of IQSEC2, further delineating the genotype–phenotype correlation for this X‐linked gene. Blackwell Publishing Ltd 2022-04-06 2022-07 /pmc/articles/PMC9325495/ /pubmed/35347702 http://dx.doi.org/10.1111/cge.14136 Text en © 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Short Reports
Shoubridge, Cheryl
Dudding‐Byth, Tracy
Pasquier, Laurent
Goel, Himanshu
Yap, Patrick
McConnell, Vivienne
IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain
title IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain
title_full IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain
title_fullStr IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain
title_full_unstemmed IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain
title_short IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain
title_sort iqsec2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain
topic Short Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9325495/
https://www.ncbi.nlm.nih.gov/pubmed/35347702
http://dx.doi.org/10.1111/cge.14136
work_keys_str_mv AT shoubridgecheryl iqsec2relatedencephalopathyinmalesduetomissensevariantsinthepleckstrinhomologydomain
AT duddingbythtracy iqsec2relatedencephalopathyinmalesduetomissensevariantsinthepleckstrinhomologydomain
AT pasquierlaurent iqsec2relatedencephalopathyinmalesduetomissensevariantsinthepleckstrinhomologydomain
AT goelhimanshu iqsec2relatedencephalopathyinmalesduetomissensevariantsinthepleckstrinhomologydomain
AT yappatrick iqsec2relatedencephalopathyinmalesduetomissensevariantsinthepleckstrinhomologydomain
AT mcconnellvivienne iqsec2relatedencephalopathyinmalesduetomissensevariantsinthepleckstrinhomologydomain