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| The family of ATR-X syndrome caused by the novel mutation in ATRX gene |
| 1. National Research Institute for Family Planning, Beijing 100081；2. National Human Genetic Resources Center；3. Beijing Obstetrics and Gynecology Hospital, Capital Medical University；4. Heze Municipal Hospital |
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Abstract To investigate the pathogenic genetic mutation of a family with ATR-X syndrome. Methods: Whole exome sequencing was performed on the proband of the family with ATR-X syndrome. The candidate pathogenic variants were screened by bioinformatics analysis. Polymerase chain reaction (PCR) and Sanger sequencing were used to verify the pathogenic genetic mutation site of the family members. Results: Whole exome sequencing revealed a novel hemizygous variation (c.161_162del，p.Ser54Ter) of ATRX gene on X chromosome of the proband. The verification of family members by Sanger sequencing showed that the variation was conformed to the co-segregation in the family. Conclusion: The novel mutation (c.161_162del) of ATRX gene is the genetic factor causing ATR-X syndrome in this family.
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