Prenatal diagnosis of skeletal dysplasias using whole exome sequencing in China
| Autor: | Hui Li, Jieliang Tan, Ning Li, Qinlong Zeng, Yan Hong, Li Yuping, Qing Li, Songbai Wang, Wei Ma, Chenglong Zhou, Liangping Luo, Sun Tielan, Jia Tang, Haihong Shi, Yuying Mo, Weilan Tan, Jinling Zhu |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
0301 basic medicine Proband China Pathology medicine.medical_specialty Genetic counseling Clinical Biochemistry Prenatal diagnosis Osteochondrodysplasias Biochemistry Umbilical cord Young Adult 03 medical and health sciences symbols.namesake Fetus 0302 clinical medicine Prenatal Diagnosis Exome Sequencing medicine Humans Copy-number variation Exome sequencing Sanger sequencing business.industry Biochemistry (medical) General Medicine 030104 developmental biology medicine.anatomical_structure Ultrasonic Waves 030220 oncology & carcinogenesis symbols Female business |
| Zdroj: | Clinica Chimica Acta. 507:187-193 |
| ISSN: | 0009-8981 |
| Popis: | Background Skeletal dysplasias account for nearly 10% of fetal structural malformations detected by ultrasonography. This clinically heterogeneous group of genetic anomaly includes at least 461 genetic skeletal disorders with extreme clinical, phenotypic, and genetic heterogeneities, thus, significantly complicates accurate diagnosis. Researches have used whole exome sequencing (WES) for prenatal molecular diagnoses of skeletal dysplasias, however, data are still limited. Methods DNA extracted from umbilical cord blood or amniocytes from fetuses suspected of skeletal dysplasias based on ultrasound evaluations were analyzed by WES. Blood samples were taken from the parents of the positive fetuses for co-segregation analysis using Sanger sequencing. Result Definitive molecular diagnosis was made in 6/8 (75%) cases, comprised of 5 de novo disease-causing changes in 3 genes (FGFR3, COL2A1, and COL1A2) and one proband with a biallelic deficiency for Lamin B Receptor(LBR),and including 3 novel variants. All fetuses had no detectable copy number variation (CNV) from sequencing results. Conclusions Our study suggests that WES is an efficient approach for prenatal diagnosis of fetuses suspected of skeletal abnormalities and contributes to parental genetics counseling and pregnancy management. |
| Databáze: | OpenAIRE |
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