title: 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.affiliation: Division of Clinical Genetics and Metabolism, Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, Louisiana.|Children's Hospital of New Orleans, New Orleans, Louisiana.
authors.forename: Michael
authors.initials: M
authors.lastname: Marble
authors.affiliation: GeneDx, Gaithersburg, Maryland.
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Guillen Sacoto
authors.affiliation: GeneDx, Gaithersburg, Maryland.
authors.forename: Rashmi
authors.initials: R
authors.lastname: Chikarmane
authors.affiliation: Children's Hospital of New Orleans, New Orleans, Louisiana.|Division of Pediatric Orthopedics, Department of Orthopedics, Louisiana State University Health Sciences Center, New Orleans, Louisiana.
authors.forename: Dominic
authors.initials: D
authors.lastname: Gargiulo
authors.affiliation: GeneDx, Gaithersburg, Maryland.
authors.forename: Jane
authors.initials: J
authors.lastname: Juusola
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D004370:Duane Retraction Syndrome / Q000175:diagnosis / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D059472:Exome; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing; D006617:Hip Dislocation / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D010641:Phenotype; D011859:Radiography; D058207:Sumoylation; D014057:Tomography, X-Ray Computed; D044764:Ubiquitin-Activating Enzymes / Q000235:genetics* / Q000378:metabolism
chemical_list: C470301:UBA2 protein, human; D044764:Ubiquitin-Activating Enzymes
keywords: SUMOylation; aplasia cutis congenita; scalp defects