Mutation of a suspected Meckel-Gruber Pedigree: a multiple genetics analysis
ZHANG Liangfan1, YAN Kai2, WANG Ying1, HUANG Li1
1.Depatment of Gynaecology and Obstetrics, Yiwu Maternity and Child Care Family-planning Service Center, Jinhua 322000, China; 2.Department of Reproductive Genetics, Women’s Hospital School of Medicine Zhejiang University, Hangzhou 310000, China
ZHANG Liangfan,YAN Kai,WANG Ying, et al. Mutation of a suspected Meckel-Gruber Pedigree: a multiple genetics analysis[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2019, 49(10): 748-752.
Abstract：Objective: To make a genetic analysis of a case of fetal tissue induced by clinically suspected Meckel syndrome so as to provide the family with genetic counseling and re-fertility suggestions. Methods: The comparative genomic hybridization (CGH) and whole exon sequencing (WES) technology was used for detecting the genetic mutation of the fetal tissues, and Sanger sequencing was used to verify the pathogenic sites of fetal parents and sisters. Results: Chromosomal microarray showed no obvious abnormality. WES showed the fetus carried the CC2D2A gene c.3964C>T and c.4567T>C compound heterozygous variation. Conclusion: CC2D2A gene c.3964C>T and c.4567T>C compound heterozygous mutations are the cause of Meckel syndrome in this family. Combination of different techniques can be applied to find disease-causing gene mutations and give a sufficient evidence for genetic consultation, prenatal diagnosis or pre-implantation genetic diagnosis.
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