期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 188, 期 2, 页码 590-594出版社
WILEY
DOI: 10.1002/ajmg.a.62527
关键词
cardiac anomaly; INTU; oral-facial-digital syndrome; polydactyly; tongue nodules
Oral-facial-digital syndrome XVII (OFDS XVII) is a rare genetic disorder characterized by developmental delay, facial and oral cavity abnormalities, polydactyly, cardiac anomaly, and other findings. It is caused by biallelic variants in the INTU gene and inherited in an autosomal recessive manner.
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.
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