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| Identification of one patient with Joubert syndrome because of CSPP1 mutations by wholeexome sequencing |
| 1. National Research Institute for Family Planning，Beijing, 100081; 2. Qingdao Women & Children’s Hospital; 3 Graduate School of Peking Union Medical College |
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Abstract Objective: To investigate the causal gene and its genetic loci in a Chinese family with Joubert syndrome. Methods: Whole exome sequencing was applied to examine the DNA sample of proband patient in a family with Joubert syndrome. Data were aligned and mapped to the human genome reference (hg19). Variants were called by GATK and filtered by public database. Polymerase chain reaction followed by Sanger sequencing was used to verify the candidate variants. Results: Two compound heterozygous variants in CSPP1 gene of chromosome 8 of proband patient were identified, which were c.1132C>T, p.R378X and c.2244_2245delAA, p.E750GfsX30. The two genetic loci conformed to genetic separation rule in the family. Conclusion: c.1132C>T, p.R378X and c.2244_2245delAA, p.E750GfsX30 of CSPP1 gene are genetic loci to cause Joubert syndrome, which is found by whole exome sequencing combined with Sanger sequencing. This is the first reporting that Joubert syndrome caused by CSPP1 mutations in China.
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