Dataset Information

Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.

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

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Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.

Luo Minna M Cao Li L Cao Zongfu Z Ma Siyu S Shen Yue Y Yang Di D Lu Chao C Lin Zaisheng Z Liu Zhimin Z Yu Yufei Y Cai Ruikun R Chen Cuixia C Gao Huafang H Wang Xueyan X Cao Muqing M Ma Xu X

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]

PMID: 31625690

Dataset Information

Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.

Publications

Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.

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