The pathogenicity of rare damaging variants from ciliary pathway to human lumbosacral neural tube defects
10.19405/j.cnki.issn1000-1492.2022.04.022
- Author:
Jing Wang
1
;
Fang Liu
2
;
Hua Xie
2
;
Chunquan Cai
3
;
Hong Jiang
1
;
Xiaoli Chen
2
Author Information
1. Reproductive Medicine Center，The 901 Hospital of the Joint Logistic Support Force of the People 's Liberation Army，Hefei 230031
2. Beijing Municipal Key Laboratory of Child Development and Nutriomics，Capital Institute of Pediatrics，Beijing 100020
3. Dept of Neurosurgery，The Children ’s Hospital of Tianjin，Tianjin 300074
- Publication Type:Journal Article
- Keywords:
iumbosacral neural tube defects;
ciliary genes;
rare damaging mutation
- From:
Acta Universitatis Medicinalis Anhui
2022;57(4):626-630
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the pathogenicity of rare damaging variants from ciliary pathway to human lumbosacral neural tube defects(NTDs).
Methods:The coding region sequences of 49 ciliary genes were amplified by AmpliSeq technique and sequenced by PGM sequencing platform for screening the rare damaging variants, and the parents without phenotype were used as controls to evaluate the pathogenicity of variants.
Results:The rare de novo mutation of GLI3 gene(c.C580 T,p.H194 Y) was detected in one patient.The rare complex heterozygous mutations of CRB2 gene(c.G1392 C,p.R464 S;c.T3448 C,p.C1150 R) was detected in another patient.
Conclusion:Rare damaging variants from ciliary pathway may be associated with the occurrence of human lumbosacral NTDs.
- Full text:2025021815330553121纤毛通路基因罕见危害性基因...人腰骶部神经管畸形的致病性_汪静.pdf
