Dataset Information
Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.
Ontology highlight
ABSTRACT: 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.
SUBMITTER: Luo M
PROVIDER: S-EPMC6900356 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Publications
Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.
Molecular genetics & genomic medicine 20191018 12
<h4>Background</h4>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.<h4>Methods</h4>Whole exome sequencing was performed to detect the causative gene mutations in a Chinese patient with JS followed by Sanger sequencing. RT-PCR and ...[more]
