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Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.
Mol Genet Genomic Med. 2019 12; 7(12):e1004.MG

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.

Authors+Show Affiliations

National Research Institute for Family Planning, Beijing, China. National Human Genetic Resources Center, Beijing, China.Child Healthcare Department (Child Early Development Center), Sichuan Provincial Hospital for Women and Children, Chengdu, China.National Research Institute for Family Planning, Beijing, China. National Human Genetic Resources Center, Beijing, China.National Research Institute for Family Planning, Beijing, China. Graduate School of Peking Union Medical College, Beijing, China.National Research Institute for Family Planning, Beijing, China. National Human Genetic Resources Center, Beijing, China.Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.National Research Institute for Family Planning, Beijing, China. National Human Genetic Resources Center, Beijing, China.Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.Department of Radiology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.National Research Institute for Family Planning, Beijing, China. National Human Genetic Resources Center, Beijing, China.National Research Institute for Family Planning, Beijing, China. National Human Genetic Resources Center, Beijing, China.National Research Institute for Family Planning, Beijing, China. National Human Genetic Resources Center, Beijing, China.National Research Institute for Family Planning, Beijing, China. National Human Genetic Resources Center, Beijing, China.Department of Prenatal Diagnosis, Sichuan Provincial Hospital for Women and Children, Chengdu, China.Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.National Research Institute for Family Planning, Beijing, China. National Human Genetic Resources Center, Beijing, China.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

31625690

Citation

Luo, Minna, et al. "Whole Exome Sequencing Reveals Novel CEP104 Mutations in a Chinese Patient With Joubert Syndrome." Molecular Genetics & Genomic Medicine, vol. 7, no. 12, 2019, pp. e1004.
Luo M, Cao L, Cao Z, et al. Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome. Mol Genet Genomic Med. 2019;7(12):e1004.
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, X. (2019). Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome. Molecular Genetics & Genomic Medicine, 7(12), e1004. https://doi.org/10.1002/mgg3.1004
Luo M, et al. Whole Exome Sequencing Reveals Novel CEP104 Mutations in a Chinese Patient With Joubert Syndrome. Mol Genet Genomic Med. 2019;7(12):e1004. PubMed PMID: 31625690.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome. AU - Luo,Minna, AU - Cao,Li, AU - Cao,Zongfu, AU - Ma,Siyu, AU - Shen,Yue, AU - Yang,Di, AU - Lu,Chao, AU - Lin,Zaisheng, AU - Liu,Zhimin, AU - Yu,Yufei, AU - Cai,Ruikun, AU - Chen,Cuixia, AU - Gao,Huafang, AU - Wang,Xueyan, AU - Cao,Muqing, AU - Ma,Xu, Y1 - 2019/10/18/ PY - 2019/08/20/received PY - 2019/09/17/revised PY - 2019/09/18/accepted PY - 2019/10/19/pubmed PY - 2020/6/20/medline PY - 2019/10/19/entrez KW - CEP104 KW - Joubert syndrome KW - cerebellar vermis hypoplasia KW - whole exome sequencing SP - e1004 EP - e1004 JF - Molecular genetics & genomic medicine JO - Mol Genet Genomic Med VL - 7 IS - 12 N2 - 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. SN - 2324-9269 UR - https://www.unboundmedicine.com/medline/citation/31625690/Whole_exome_sequencing_reveals_novel_CEP104_mutations_in_a_Chinese_patient_with_Joubert_syndrome_ L2 - https://doi.org/10.1002/mgg3.1004 DB - PRIME DP - Unbound Medicine ER -