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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Bibliographic Details
Published inHuman genome variation Vol. 10; no. 1; p. 16
Main Authors Parveen, Asia, Tariq, Muhammad, Khan, Sher Alam, Kakar, Naseebullah, Arif, Amina, Wasif, Naveed
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 23.05.2023
Springer Nature B.V
Nature Publishing Group
Subjects
631/208
631/208/2489
Asymptomatic
Biomedical and Life Sciences
Biomedicine
Data Report
Fingers & toes
Gene Expression
Gene Function
Gene Therapy
Genetic engineering
Genomes
Genotype & phenotype
Hands
Human Genetics
Molecular Medicine
Mutation
Patients
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Summary: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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ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-023-00242-z