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- Title
A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4.
- Authors
Enomoto, Yumi; Tsurusaki, Yoshinori; Tominaga, Makiko; Kobayashi, Shinji; Inoue, Maki; Fujita, Kazutoshi; Kumaki, Tatsuro; Murakami, Hiroaki; Kurosawa, Kenji
- Abstract
Treacher Collins syndrome (TCS) is a heterogenous malformation syndrome characterized by a distinct facial appearance including downslanting palpebral fissures, malar hypoplasia, conductive hearing loss, and mandibular hypoplasia. Recently, a new causative gene, POLR1B, encoding DNA-directed RNA polymerase I subunit RPA2, was identified as a fourth type of TCS (TCS4). We describe another patient with TCS4 caused by a recurrent POLR1B variant, c.3007C>T; p.Arg1003Cys. Including our patient, all 4 patients with p.(Arg1003Cys) had atresia of the external auditory canal and microtia. All of the reported pathogenic variants in POLR1B were clustered at only 2 residues. Our patient highlights the genotype-phenotype correlation in TCS4 associated with POLR1B.
- Publication
Molecular Syndromology, 2021, Vol 12, Issue 2, p127
- ISSN
1661-8769
- Publication type
Article
- DOI
10.1159/000513224