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.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Luo M,Cao L,Cao Z,Ma S,Shen Y,Yang D,Lu C,Lin Z,Liu Z,Yu Y,Cai R,Chen C,Gao H,Wang X,Cao M,Ma Xdoi
10.1002/mgg3.1004subject
Has Abstractpub_date
2019-12-01 00:00:00pages
e1004issue
12issn
2324-9269journal_volume
7pub_type
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