Open AccessWhole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome
Author(s) -
Luo Minna,
Cao Li,
Cao Zongfu,
Ma Siyu,
Shen Yue,
Yang Di,
Lu Chao,
Lin Zaisheng,
Liu Zhimin,
Yu Yufei,
Cai Ruikun,
Chen Cuixia,
Gao Huafang,
Wang Xueyan,
Cao Muqing,
Ma Xu
Publication year - 2019
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1004
Subject(s) - joubert syndrome , sanger sequencing , exome sequencing , genetics , proband , biology , mutation , gene , compound heterozygosity
Background Joubert syndrome (JS, OMIM: 213300) is a recessive developmental disorder characterized by cerebellar vermis hypoplasia and a distinctive mid‐hindbrain malformation called the “molar tooth sign” on axial magnetic resonance imaging. To date, more than 35 ciliary genes have been identified as the causative genes of JS. Methods Whole exome sequencing was performed to detect the causative gene mutations in a Chinese patient with JS followed by Sanger sequencing. RT‐PCR and Sanger sequencing were used to confirm the abnormal transcript of centrosomal protein 104 ( CEP104 , OMIM: 616690). Results We identified two novel heterozygous mutations of CEP104 in the proband, which were c.2364+1G>A and c.414delC (p.Asn138Lysfs*11) (GenBank: NM_014704.3 ) and consistent with the autosomal recessive inheritance mode. Conclusion Our study reported the fourth case of JS patients with CEP104 mutations, which expands the mutation spectrum of CEP104 and elucidates the clinical heterogeneity of JS.