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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Detalles Bibliográficos
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
Descripción
Sumario: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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