Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly

Mio Aerden; Marijke Bauters; Kris Van Den Bogaert; Joris R Vermeesch; Maureen Holvoet; Frank Plasschaert; Koenraad Devriendt

doi:10.1016/j.ejmg.2020.104009

Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly

Eur J Med Genet. 2020 Nov;63(11):104009. doi: 10.1016/j.ejmg.2020.104009. Epub 2020 Aug 3.

Authors

Mio Aerden¹, Marijke Bauters¹, Kris Van Den Bogaert¹, Joris R Vermeesch¹, Maureen Holvoet¹, Frank Plasschaert², Koenraad Devriendt³

Affiliations

¹ Center for Human Genetics, University Hospital Leuven and KU Leuven, Leuven, Belgium.
² Department of Physical Medicine and Orthopaedic Surgery, Ghent University, Ghent, Belgium.
³ Center for Human Genetics, University Hospital Leuven and KU Leuven, Leuven, Belgium. Electronic address: koenraad.devriendt@uzleuven.be.

PMID: 32758660
DOI: 10.1016/j.ejmg.2020.104009

Abstract

Interstitial 19q13.11 deletions are associated with ectrodactyly, which has recently been linked to loss-of-function of the UBA2 gene. We report a boy with a de novo frameshift mutation in UBA2 (c.612delA (p.(Glu205Lysfs*63)), presenting with ectrodactyly of the feet associated with learning difficulties and minor physical anomalies. We review genotype-phenotype correlations in patients with chromosomal 19q13.11 microdeletions compared to those with intragenic UBA2 mutations.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
Child, Preschool
Chromosome Deletion
Chromosome Disorders / genetics*
Chromosome Disorders / pathology
Frameshift Mutation
Genotype
Humans
Limb Deformities, Congenital / genetics*
Limb Deformities, Congenital / pathology
Male
Phenotype*
Ubiquitin-Activating Enzymes / genetics*

Substances

UBA2 protein, human
Ubiquitin-Activating Enzymes

Supplementary concepts

Chromosome 19q13.11 Deletion Syndrome
Ectrodactyly