A Novel POGZ Mutation in a Patient with Intellectual Disability
- VernacularTitle:智力障碍患者POGZ基因突变分析
- Author:
Ying LI
1
;
yi Xin LIN
;
yong Chuan LIU
;
shan Song JIANG
;
ming Xing SONG
;
Zhen CHEN
Author Information
1. 中山大学中山医学院医学遗传教研室
- Keywords:
POGZ;
intellectual disability;
de novo mutation
- From:
Journal of Sun Yat-sen University(Medical Sciences)
2017;38(6):827-832
- CountryChina
- Language:Chinese
-
Abstract:
[Objective]Screening mutation sites of POGZ gene in 100 intellectual disability patients to explore their pathogenesis relationship.[Method]Genomic DNA was isolated from peripheral blood. All exons,exon-intron boundaries,5'UTR and 3'UTR of POGZ were amplified by PCR and PCR products were directly sequenced.[Results]A novel mutation was identified,and the mis?sense mutation disrupted the unique zing-finger like motif of POGZ,which is a critical element for binding Hp1. The mutated POGZ failed to bind with HP1 thus might lose its cell cycle regulation function.[Conclusion]Mutations of POGZ gene weighs more in intel?lectual disability etiology. Screening of POGZ in unexplained intellectual disability patients contributes to their pathogenesis analyze , screening of POGZ in pregnants with family history of intellectual disability can prevent intellectual disability from birthing.
