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

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A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family
Human Genome Variation Pub Date : 2023-05-23 , DOI: 10.1038/s41439-023-00242-z
Asia Parveen _{1,

2} , Muhammad Tariq ₃ , Sher Alam Khan ₄ , Naseebullah Kakar _{5,

6} , Amina Arif ₁ , Naveed Wasif _{7,

8}

Affiliation

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.

更新日期：2023-05-23

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