Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection
ABSTRACT Background Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs. Materials and Methods In this study, we recruited...
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Wiley
2025-01-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.70062 |
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| author | Li‐min Cui Hua‐ying Hu Xiao‐mei Zhai Ming‐fei Qi Yan‐ming Liu Cong‐ying Han Jing Zhang Ming Shen Yu‐lan Xiang Wen‐qi Chen Kai Yang Dong‐liang Zhang Huan‐xia Xing |
| author_facet | Li‐min Cui Hua‐ying Hu Xiao‐mei Zhai Ming‐fei Qi Yan‐ming Liu Cong‐ying Han Jing Zhang Ming Shen Yu‐lan Xiang Wen‐qi Chen Kai Yang Dong‐liang Zhang Huan‐xia Xing |
| author_sort | Li‐min Cui |
| collection | DOAJ |
| description | ABSTRACT Background Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs. Materials and Methods In this study, we recruited 26 cases of SD and analyzed them with a designed sequential genetic detection. Chromosome karyotyping, microarray analysis (CMA), and whole exome sequencing (WES) techniques are performed as needed. Sanger sequencing and fluorescent quantitative PCR (QF‐PCR) were used as validation methods. Results A total of 16 cases (61.5%, 16/26) received positive results at various levels of testing, including one trisomy 18, four copy number variations (CNVs), and 11 sequence variations. Additionally, four novel SD‐related sequence mutations were detected in this study. Conclusion Our findings provide conclusive evidence for genetic counseling of corresponding families and expand the mutation spectrum of SD. In addition, this study demonstrates that a strategy sequentially including various genetic techniques contributes to the diagnosis of highly heterogeneous genetic disorders such as SD. |
| format | Article |
| id | doaj-art-b9e7a5694be44d2d998bbc07b7b31145 |
| institution | Kabale University |
| issn | 2324-9269 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj-art-b9e7a5694be44d2d998bbc07b7b311452025-01-24T08:16:42ZengWileyMolecular Genetics & Genomic Medicine2324-92692025-01-01131n/an/a10.1002/mgg3.70062Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic DetectionLi‐min Cui0Hua‐ying Hu1Xiao‐mei Zhai2Ming‐fei Qi3Yan‐ming Liu4Cong‐ying Han5Jing Zhang6Ming Shen7Yu‐lan Xiang8Wen‐qi Chen9Kai Yang10Dong‐liang Zhang11Huan‐xia Xing12Prenatal Diagnosis Center Langfang Maternal and Child Health Care Hospital Langfang Hebei ChinaBirth Defects Prevention and Control Technology Research Center Medical Innovation Research Division of Chinese PLA General Hospital Beijing ChinaPrenatal Diagnosis Center Langfang Maternal and Child Health Care Hospital Langfang Hebei ChinaPrenatal Diagnosis Center Langfang Maternal and Child Health Care Hospital Langfang Hebei ChinaPrenatal Diagnosis Center Langfang Maternal and Child Health Care Hospital Langfang Hebei ChinaPrenatal Diagnosis Center Langfang Maternal and Child Health Care Hospital Langfang Hebei ChinaPrenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital; Hebei Key Laboratory of Maternal and Fetal Medicine Shijiazhuang Key Laboratory of Reproductive Health Shijiazhuang Hebei ChinaBirth Defects Prevention and Control Technology Research Center Medical Innovation Research Division of Chinese PLA General Hospital Beijing ChinaDepartment of Orthodontics, Beijing Stomatological Hospital, Capital Medical University School of Stomatology Capital Medical University Beijing ChinaPrenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital; Hebei Key Laboratory of Maternal and Fetal Medicine Shijiazhuang Key Laboratory of Reproductive Health Shijiazhuang Hebei ChinaPrenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital; Beijing Maternal and Child Healthcare Hospital Capital Medical University Beijing ChinaDepartment of Orthodontics, Beijing Stomatological Hospital, Capital Medical University School of Stomatology Capital Medical University Beijing ChinaPrenatal Diagnosis Center Langfang Maternal and Child Health Care Hospital Langfang Hebei ChinaABSTRACT Background Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs. Materials and Methods In this study, we recruited 26 cases of SD and analyzed them with a designed sequential genetic detection. Chromosome karyotyping, microarray analysis (CMA), and whole exome sequencing (WES) techniques are performed as needed. Sanger sequencing and fluorescent quantitative PCR (QF‐PCR) were used as validation methods. Results A total of 16 cases (61.5%, 16/26) received positive results at various levels of testing, including one trisomy 18, four copy number variations (CNVs), and 11 sequence variations. Additionally, four novel SD‐related sequence mutations were detected in this study. Conclusion Our findings provide conclusive evidence for genetic counseling of corresponding families and expand the mutation spectrum of SD. In addition, this study demonstrates that a strategy sequentially including various genetic techniques contributes to the diagnosis of highly heterogeneous genetic disorders such as SD.https://doi.org/10.1002/mgg3.70062chromosome microarray analysiskaryotypingskeletal dysplasiawhole exome sequencing |
| spellingShingle | Li‐min Cui Hua‐ying Hu Xiao‐mei Zhai Ming‐fei Qi Yan‐ming Liu Cong‐ying Han Jing Zhang Ming Shen Yu‐lan Xiang Wen‐qi Chen Kai Yang Dong‐liang Zhang Huan‐xia Xing Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection Molecular Genetics & Genomic Medicine chromosome microarray analysis karyotyping skeletal dysplasia whole exome sequencing |
| title | Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection |
| title_full | Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection |
| title_fullStr | Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection |
| title_full_unstemmed | Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection |
| title_short | Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection |
| title_sort | analysis of a series of 26 cases with prenatal skeletal dysplasia via multiplatform genetic detection |
| topic | chromosome microarray analysis karyotyping skeletal dysplasia whole exome sequencing |
| url | https://doi.org/10.1002/mgg3.70062 |
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