1. Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly.
- Author
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Aerden M, Bauters M, Van Den Bogaert K, Vermeesch JR, Holvoet M, Plasschaert F, and Devriendt K
- Subjects
- Abnormalities, Multiple pathology, Child, Preschool, Chromosome Deletion, Chromosome Disorders pathology, Frameshift Mutation, Genotype, Humans, Limb Deformities, Congenital pathology, Male, Abnormalities, Multiple genetics, Chromosome Disorders genetics, Limb Deformities, Congenital genetics, Phenotype, Ubiquitin-Activating Enzymes genetics
- 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., (Copyright © 2020 Elsevier Masson SAS. All rights reserved.)
- Published
- 2020
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