Department of Medical Genetics, Faculty of Medicine, Ataturk University, Erzurum, Turkey.
Am J Med Genet A. 2022 Feb;188(2):590-594. doi: 10.1002/ajmg.a.62527. Epub 2021 Oct 8.
Oral-facial-digital syndromes (OFDSs) as a subgroup of ciliopathies are rare genetic disorders characterized by the association of abnormalities of the face, oral cavity, and extremities. OFDS XVII is a recently described subtype of OFDS that presents with developmental delay, facial dysmorphism, high palate, tongue nodules, brain malformations, cardiac anomaly, polydactyly, renal malformation, and various other findings. OFDS XVII is caused by biallelic variants in INTU gene and is inherited autosomal recessively. Intu is part of the CPLANE protein module that has an essential role in the ciliary transport system and function. INTU pathogenic variants have been reported in two patients with OFDS XVII, in two patients with short-rib thoracic dysplasia-20 with polydactyly (SRTD20), and one with nephronophthisis so far. We report the third family in the literature with OFDS XVII, with urogenital malformations as an additional finding.
口腔面指综合征（OFDSs）作为纤毛病的一个亚类，是一种罕见的遗传性疾病，其特征是面部、口腔和四肢的异常。OFDSXVII 是最近描述的 OFDS 亚型，表现为发育迟缓、面部畸形、高腭、舌结节、脑畸形、心脏异常、多指畸形、肾脏畸形和其他各种发现。OFDSXVII 由 INTU 基因的双等位基因突变引起，呈常染色体隐性遗传。Intu 是 CPLANE 蛋白模块的一部分，在纤毛运输系统和功能中具有重要作用。迄今为止，已有两名 OFDSXVII 患者、两名短肋胸发育不良-20 伴多指畸形（SRTD20）患者和一名肾单位肾病变患者报告了 INTU 致病性变异。我们报告了文献中的第三个 OFDSXVII 家族，其存在泌尿生殖系统畸形的附加发现。
