Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.
Mol Genet Genomic Med
; 7(12): e1004, 2019 12.
Article
em En
| MEDLINE
| ID: mdl-31625690
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.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Retina
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Anormalidades Múltiplas
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Cerebelo
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Anormalidades do Olho
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Proteínas de Ciclo Celular
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Doenças Renais Císticas
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Sequenciamento do Exoma
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Mutação
Limite:
Child, preschool
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Humans
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Male
Idioma:
En
Revista:
Mol Genet Genomic Med
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
China