Identification and interruption of inheritance of familial cryptic translocations: A case report

Background Cryptic translocations can be identified via genetic analysis of aborted tissues or malformed infants, but it is difficult to deduce the parental origins of the translocations. In the absence of such information, it is not easy to distinguish translocations from normal embryos during pre‐...

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Bibliographic Details
Published in:Molecular genetics & genomic medicine 2024-01, Vol.12 (1), p.e2356-n/a
Main Authors: Ou, Jian, Sun, Jian, Yang, Chuan‐Chun, Ni, Meng‐Xia, Zou, Qin‐Yan, Xing, Shi‐Yu, Lin, Chun‐Hua, Meng, Qing‐Xia, Ding, Jie, Zheng, Ai‐Yan, Zhang, Yan, Kong, Ling‐Yin, Liang, Bo, Li, Hong
Format: Article
Language:English
Subjects:
Amniocentesis
Biopsy
breakpoint sequencing
Chromosome translocations
Chromosomes
Clinical Report
Clinical Reports
cryptic translocation
Embryos
Females
Gene sequencing
Genes
Genetic analysis
Genetic counseling
Genetic screening
Genetic testing
Genomes
Haplotypes
In vitro fertilization
Miscarriage
PGH
Proteins
WGLMPS
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Summary:Background Cryptic translocations can be identified via genetic analysis of aborted tissues or malformed infants, but it is difficult to deduce the parental origins of the translocations. In the absence of such information, it is not easy to distinguish translocations from normal embryos during pre‐implantation genetic testing, that seeks to block familial transmission of translocations. Methods Here, we present a new method that detects cryptic translocations and blocks familial transmission thereof. Whole‐genome, low‐coverage mate‐pair sequencing (WGLMPS) revealed chromosome breakpoint sequences, and preimplantation genetic haplotyping (PGH) was then used to discard embryos with cryptic translocations. Results Cryptic translocations were found in all four families, and familial transmission was successfully blocked in one family. Conclusion Whole‐genome, low‐coverage mate‐pair sequencing combined with preimplantation genetic haplotyping methods powerfully and practically identify cryptic translocations and block familial transmissions. Previously, it was difficult to identify and block familial transmission of cryptic translocations, especially when parental origins of the translocations are absence. In this work, we report a WGLMPS (whole‐genome, low‐coverage mate‐pair sequencing) method that can effectively detect chromosome breakpoint. Using this method, we identified cryptic translocations in four families and successfully blocked the familial transmission in one family.
ISSN:2324-9269
2324-9269
DOI:10.1002/mgg3.2356