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Abstract Objective: To identify the genetic mutations and its mutation site of a Chinese family with Joubert syndrome. Methods: Target exome sequencing was applied to examine the DNA sample of a male patient in the Chinese family with Joubert syndrome. Candidate variants were selected by bioinformatics analysis. Polymerase chain reaction followed by Sanger sequencing was used to verify the candidate variant. Results: The chromosome 9 INPP5E had two hybrid mutation site, which were c.1524C>G, p.Asp508Glu and c.1688G>A, p.Arg563His. The two mutation sites of the family members were conform to the genetic cosegregated rule. Compound heterozygous variants were identified in INPP5E. Conclusion: Target exome sequencing combined with Sanger sequencing find site of c.1524C>G and c.1688G>A of INPP5E gene cause Joubert syndrome. This is the first report that the case of Chinese Joubert syndrome caused by INPP5E gene mutation, c.1524C>G is a novel mutation site for disease.
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