A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family.
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
23 May 2023
23 May 2023
Historique:
received:
23
03
2023
accepted:
11
04
2023
revised:
05
04
2023
medline:
24
5
2023
pubmed:
24
5
2023
entrez:
23
5
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37221169
doi: 10.1038/s41439-023-00242-z
pii: 10.1038/s41439-023-00242-z
pmc: PMC10206101
doi:
Types de publication
Journal Article
Langues
eng
Pagination
16Informations de copyright
© 2023. The Author(s).
Références
PLoS One. 2011;6(9):e24812
pubmed: 21931855
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Genet Med. 2021 Sep;23(9):1624-1635
pubmed: 34040189
Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R51-60
pubmed: 12668597
Eur J Med Genet. 2020 Nov;63(11):104009
pubmed: 32758660
Br J Dermatol. 2020 Mar;182(3):792-794
pubmed: 31587267
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Clin Case Rep. 2018 May 28;6(7):1300-1307
pubmed: 29988626
Am J Med Genet A. 2013 Nov;161A(11):2860-72
pubmed: 24115638
Genome Res. 2016 Feb;26(2):183-91
pubmed: 26755636