Whole‐exome sequencing identified novel variants in CPLANE1 that causes oral‐facial‐digital syndrome Ⅵ by inducing primary cilia abnormality
- Resource Type
- Authors
- Wen, Qian; Xinlei, Liu; Zhengrong, Wang; Yongjie, Xu; Jingzhi, Zhang; Haizhi, Li; Qiang, Zhong; Chengcheng, Li; Liying, Zhu; Zunlun, Zhou; Wei, Pan
- Source
- Journal of Cellular and Molecular Medicine. 26:3213-3222
- Subject
- Adult
Cell Biology
Orofaciodigital Syndromes
Toes
Fingers
Mice
Polydactyly
Pregnancy
Exome Sequencing
Animals
Humans
Molecular Medicine
Abnormalities, Multiple
Female
Cilia
- Language
- ISSN
- 1582-4934
1582-1838
Oral-facial-digital syndrome (OFDS) is a multisystemic ciliopathic disorder with an autosomal recessive mode of inheritance. OFDS usually manifests with typical craniofacial anomalies and variable occurrence of polydactyly. Germline variants in CPLANE1 cause OFDS VI. In this study, we investigated a 26-year-old Chinese female patient who was 23