Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly

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.

Jaar van publicatie:2020

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BOF-publication weight:1

CSS-citation score:1

Authors from:Higher Education

Toegankelijkheid:Open