Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway.

Abstract

We report a patient with aplasia cutis congenita, Duane anomaly, hip dysplasia, and other anomalies who had a de novo missense variant in UBA2, which encodes for a protein involved in the SUMOylation pathway. It has previously been suggested that UBA2 haploinsufficiency underlies scalp defects in the 19q13.11 deletion syndrome. We propose that disturbance of the SUMOylation pathway, mediated by pathogenic variants in UBA2, is a novel mechanism for aplasia cutis congenita and other phenotypic abnormalities. © 2017 Wiley Periodicals, Inc.

• Authors: Michael Marble, Maria J Guillen Sacoto, Rashmi Chikarmane, Dominic Gargiulo, Jane Juusola
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 173 Issue 3 Pg. 758-761 (Mar 2017) ISSN: 1552-4833 [Electronic] United States
• PMID: 28110515 (Publication Type: Journal Article)
• Copyright: © 2017 Wiley Periodicals, Inc.

Chemical References

• UBA2 protein, human
• Ubiquitin-Activating Enzymes

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Child, Preschool
• Duane Retraction Syndrome (diagnosis, genetics)
• Ectodermal Dysplasia (diagnosis, genetics)
• Exome
• Facies
• Female
• Genetic Association Studies
• Genotype
• High-Throughput Nucleotide Sequencing
• Hip Dislocation (diagnosis, genetics)
• Humans
• Mutation, Missense
• Phenotype
• Radiography
• Sumoylation
• Tomography, X-Ray Computed
• Ubiquitin-Activating Enzymes (genetics, metabolism)