A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family

Split-hand/foot malformation (SHFM) shows diverse heterogeneity and manifests with reduced penetrance and variable expressivity. This study investigated the underlying genetic cause of a family segregating SHFM. Exome sequencing followed by Sanger sequencing identified a novel single nucleotide hete...

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Autores principales: Parveen, Asia, Tariq, Muhammad, Khan, Sher Alam, Kakar, Naseebullah, Arif, Amina, Wasif, Naveed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10206101/
https://www.ncbi.nlm.nih.gov/pubmed/37221169
http://dx.doi.org/10.1038/s41439-023-00242-z
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author Parveen, Asia
Tariq, Muhammad
Khan, Sher Alam
Kakar, Naseebullah
Arif, Amina
Wasif, Naveed
author_facet Parveen, Asia
Tariq, Muhammad
Khan, Sher Alam
Kakar, Naseebullah
Arif, Amina
Wasif, Naveed
author_sort Parveen, Asia
collection PubMed
description Split-hand/foot malformation (SHFM) shows diverse heterogeneity and manifests with reduced penetrance and variable expressivity. This study investigated the underlying genetic cause of a family segregating SHFM. Exome sequencing followed by Sanger sequencing identified a novel single nucleotide heterozygous variant (NC_000019.9 (NM_005499.3):c.1118del) in UBA2 cosegregating in the family in an autosomal dominant manner. Our findings conclude that reduced penetrance and variable expressivity are the two remarkable and unusual features of SHFM.
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spelling pubmed-102061012023-05-25 A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family Parveen, Asia Tariq, Muhammad Khan, Sher Alam Kakar, Naseebullah Arif, Amina Wasif, Naveed Hum Genome Var Data Report Split-hand/foot malformation (SHFM) shows diverse heterogeneity and manifests with reduced penetrance and variable expressivity. This study investigated the underlying genetic cause of a family segregating SHFM. Exome sequencing followed by Sanger sequencing identified a novel single nucleotide heterozygous variant (NC_000019.9 (NM_005499.3):c.1118del) in UBA2 cosegregating in the family in an autosomal dominant manner. Our findings conclude that reduced penetrance and variable expressivity are the two remarkable and unusual features of SHFM. Nature Publishing Group UK 2023-05-23 /pmc/articles/PMC10206101/ /pubmed/37221169 http://dx.doi.org/10.1038/s41439-023-00242-z Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Parveen, Asia
Tariq, Muhammad
Khan, Sher Alam
Kakar, Naseebullah
Arif, Amina
Wasif, Naveed
A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family
title A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family
title_full A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family
title_fullStr A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family
title_full_unstemmed A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family
title_short A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family
title_sort novel frameshift variant in uba2 causing split-hand/foot malformations in a pakistani family
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10206101/
https://www.ncbi.nlm.nih.gov/pubmed/37221169
http://dx.doi.org/10.1038/s41439-023-00242-z
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