A Novel System for the Detection of Spontaneous Abortion-Causing Aneuploidy and Its Erroneous Chromosome Origins through the Combination of Low-Pass Copy Number Variation Sequencing and NGS-Based STR Tests

Chen, Lei; Liao, Kai; Zhao, Yuwei; Long, Zhoukai; Zhu, Senlai; Wu, Junping; Xiao, Min; Zhou, Jing; Zhang, Shuo; Li, Lianbin; Zhu, Yiwen; Lu, Daru; Yang, Jingmin; Sun, Xiaoxi

doi:10.3390/jcm12051809

Cited by 3 publications

(3 citation statements)

References 42 publications

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“…Genome sequencing was conducted by Shanghai WeHealth Biomedical Technology Co., Ltd., as previously reported [22]. The TWIST Library Preparation EF Kit 2.0 (104207) was used for DNA fragmentation and genome library construction.…”

Section: Genetic Testing and Pathogenicity Assessmentmentioning

confidence: 99%

Mild Phenotypes of Gyrate Atrophy in a Carrier with One Variant Allele of <em>OAT</em>

Ju,

Li,

Gao

et al. 2024

Preprint

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This study aimed to identify whether gyrate atrophy of the choroid and retina (GACR) heterozygous individuals have possible clinical manifestations and to explore the potential pathogenic mechanism. In this retrospective study, we surveyed a two-generation pedigree of an individual diagnosed with GACR. Two family members underwent ophthalmological, hematologic, and genetic tests. An arginine-restricted diet with vitamin B6 supplementation was implemented; clinical assessments were repeated every 3 months during follow-up. Relative OAT mRNA expression was determined using real-time quantitative polymerase chain reaction. The 19-year-old compound heterozygous daughter (OAT: c.1186C&gt;T; c.748C&gt;T), had bilateral high myopia, posterior staphyloma, chorioretinal atrophy, macular abnormalities, and elevated hematologic ornithine. The 54-year-old heterozygous mother (OAT: c.1186C&gt;T), presented with bilateral severe myopia, asymmetric posterior staphyloma, retina and choroidal capillary layer atrophy, retinal pigment epithelium abnormalities, and mildly elevated hematologic ornithine. Compared to normal individuals, the daughter and mother had 29% and 46% relative OAT mRNA expression, respectively (P&lt;0.001). We believe that this is the first report of a carrier of one OAT variant allele with mild phenotypes, suggesting that family members should be aware of the possible involvement of autosomal recessive conditions. Additional data suggests nonsense mediated decay-initiated mRNA degradation may cause GACR.

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Section: Genetic Testing and Pathogenicity Assessmentmentioning

confidence: 99%

Mild Phenotypes of Gyrate Atrophy in a Carrier with One Variant Allele of <em>OAT</em>

Ju,

Li,

Gao

et al. 2024

Preprint

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show abstract

“…C.Lei and colleagues (Lei et al, 2023) for the first time proposed a new system for the detection of aneuploidy and its erroneous chromosomal origin, which caused spontaneous abortions during 2018-2020. Compared to low-pass Gbinding karyotyping, the proposed system increased the detection rate of chromosomal abnormalities in 500 unexplained recurrent spontaneous abortions to 56.4%.…”

mentioning

confidence: 99%

“…In trisomy samples, 94.7% of extra chromosomes were of maternal origin, and 5.31% were of paternal origin. The proposed new system improved the method of genetic analysis of miscarriages by providing additional reference information for the clinical management of pregnancy (Lei et al, 2023).…”

mentioning

confidence: 99%

Disease-associated variations of autosomal STR loci: minireview

Mustafayev,

Mammadov,

Hasanov

et al. 2023

J.Life.Sci.Biomed

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The human genome is constantly undergoing various types of mutations. Some of them seem to be inherited, while others occur spontaneously under the influence of external environmental factors. Some diseases are caused by mutations that are inherited from the parents. Currently, the investigation of new reliable markers for the prediagnosis of hereditary diseases is one of the urgent issues. Several of these markers are identified by genome-wide association studies (GWAS), others by candidate gene approach (CGA), as well as by individual experimental studies. The current article provides a summary of research related to the study of the association of STR markers that are included in human identification kits with various diseases. The key idea of this article was to highlight the alleles as well as several trisomies that are associated with Down's and Edwards' syndromes located in the coding region, mainly variants of loci (CSF1PO, TPOX, THO1, vWA, FGA, etc.) inside the genes, which are associated with diseases. Based on the experimentally obtained results these markers can serve as additional diagnostic tools. Moreover, these markers can be used in family planning policy.

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Mild Phenotypes of Gyrate Atrophy in a Heterozygous Carrier with One Variant Allele of OAT

Ju,

Zong,

et al. 2024

Genes

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This study aimed to identify whether gyrate atrophy of the choroid and retina (GACR) heterozygous individuals have possible clinical manifestations and to explore the potential pathogenic mechanism. In this retrospective study, we surveyed a two-generation pedigree of an individual diagnosed with GACR. Two family members underwent ophthalmological, hematologic, and genetic tests. An arginine-restricted diet with vitamin B6 supplementation was implemented; clinical assessments were repeated every 3 months during follow-up. The relative OAT mRNA expression was determined using a real-time quantitative polymerase chain reaction. The 19-year-old compound heterozygous daughter (OAT: c.1186C>T; c.748C>T) had bilateral pathologic myopia, posterior staphyloma, chorioretinal atrophy, macular abnormalities, and elevated hematologic ornithine. The 54-year-old heterozygous mother (OAT: c.1186C>T) presented with bilateral pathologic myopia, asymmetric posterior staphyloma, retina and choroidal capillary layer atrophy, retinal pigment epithelium abnormalities, and mildly elevated hematologic ornithine. Compared to normal individuals, the daughter and mother had 29% and 46% relative OAT mRNA expression, respectively (p < 0.001). We believe that this is the first report of a carrier of one OAT variant allele exhibiting a mild phenotype, suggesting that family members should be aware of the possibility of clinical involvement in carriers with some autosomal recessive conditions. Additional data suggest that nonsense-mediated, decay-initiated mRNA degradation may cause GACR.

show abstract

A Novel System for the Detection of Spontaneous Abortion-Causing Aneuploidy and Its Erroneous Chromosome Origins through the Combination of Low-Pass Copy Number Variation Sequencing and NGS-Based STR Tests

Cited by 3 publications

References 42 publications

Mild Phenotypes of Gyrate Atrophy in a Carrier with One Variant Allele of <em>OAT</em>

Mild Phenotypes of Gyrate Atrophy in a Carrier with One Variant Allele of <em>OAT</em>

Disease-associated variations of autosomal STR loci: minireview

Mild Phenotypes of Gyrate Atrophy in a Heterozygous Carrier with One Variant Allele of OAT

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