Enomoto Yumi, Tsurusaki Yoshinori, Tominaga Makiko, Kobayashi Shinji, Inoue Maki, Fujita Kazutoshi, Kumaki Tatsuro, Murakami Hiroaki, Kurosawa Kenji
Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Mol Syndromol. 2021 Apr;12(2):127-132. doi: 10.1159/000513224. Epub 2021 Mar 2.
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, , 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 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 were clustered at only 2 residues. Our patient highlights the genotype-phenotype correlation in TCS4 associated with .
特雷彻·柯林斯综合征（TCS）是一种异质性畸形综合征，其特征为独特的面部外观，包括睑裂向下倾斜、颧骨发育不全、传导性听力损失和下颌骨发育不全。最近，一个新的致病基因，编码DNA定向RNA聚合酶I亚基RPA2，被鉴定为第四种类型的TCS（TCS4）。我们描述了另一例由复发性变异c.3007C>T；p.Arg1003Cys导致的TCS4患者。包括我们的患者在内，所有4例携带p.(Arg1003Cys)的患者均有外耳道闭锁和小耳畸形。所有已报道的该基因致病变异仅聚集在2个残基处。我们的患者突出了与该基因相关的TCS4中的基因型-表型相关性。
