학술논문
Missense Variant in UBA2 Associated with Aplasia Cutis Congenita, Duane Anomaly, Hip Dysplasia, and Other Anomalies: A Possible New Disorder Involving the SUMOylation Pathway
Document Type
Academic Journal
Author
Source
American Journal Of Medical Genetics - A. Mar 01, 2017 173(3):758-761
Subject
Language
English
ISSN
1552-4825
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.