A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family.
Hum Genome Var
; 10(1): 16, 2023 May 23.
Article
en En
| MEDLINE
| ID: mdl-37221169
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Tipo de estudio:
Prognostic_studies
Idioma:
En
Revista:
Hum Genome Var
Año:
2023
Tipo del documento:
Article
País de afiliación:
Pakistán