Prenatal identification of novel HSPG2 variants associated with dyssegmental dysplasia Silverman-Handmaker type
Background: We aimed to analyze mutations of the pathogenic gene in dyssegmental dysplasia Silverman-Handmaker (DDSH) type associated with the Heparin sulfate proteoglycan 2 (HSPG2) gene. Case: Prenatal testing for genetic mutations associated with fetal DDSH were performed on a pregnant woman with...
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| Format: | Article |
| Language: | English |
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IMR Press
2022-02-01
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| Series: | Clinical and Experimental Obstetrics & Gynecology |
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| Online Access: | https://www.imrpress.com/journal/CEOG/49/2/10.31083/j.ceog4902037 |
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| author | Yunxia Wang Hui Wang |
| author_facet | Yunxia Wang Hui Wang |
| author_sort | Yunxia Wang |
| collection | DOAJ |
| description | Background: We aimed to analyze mutations of the pathogenic gene in dyssegmental dysplasia Silverman-Handmaker (DDSH) type associated with the Heparin sulfate proteoglycan 2 (HSPG2) gene. Case: Prenatal testing for genetic mutations associated with fetal DDSH were performed on a pregnant woman with previous history of carrying a fetus with short limb malformation at the 17th week of gestation. DNA was extracted from amniotic fluid and next-generation sequencing-based deep panel sequencing was performed on the Illumina NextSeq platform to identify possible causative mutations of DDSH. Results: Two novel heterozygous mutations in HSPG2 gene, c.6001dupC (p. R2001pfs*19) and c.11207G>A (p. R373Q), were identified and associated with the DDSH diagnosis. Conclusion: This is the first report to prenatally identify novel mutations in HSPG2 that confirms a DDSH diagnosis. |
| format | Article |
| id | doaj-art-2f9bf69e7856464aa944f9da9c1ff4b0 |
| institution | OA Journals |
| issn | 0390-6663 |
| language | English |
| publishDate | 2022-02-01 |
| publisher | IMR Press |
| record_format | Article |
| series | Clinical and Experimental Obstetrics & Gynecology |
| spelling | doaj-art-2f9bf69e7856464aa944f9da9c1ff4b02025-08-20T02:08:09ZengIMR PressClinical and Experimental Obstetrics & Gynecology0390-66632022-02-014923710.31083/j.ceog4902037S0390-6663(22)01686-4Prenatal identification of novel HSPG2 variants associated with dyssegmental dysplasia Silverman-Handmaker typeYunxia Wang0Hui Wang1Department of Obstetrics, Shenzhen Futian Maternal and Child Health Hospital, 518045 Shenzhen, Guangdong, ChinaDepartment of Obstetrics, Shenzhen Maternal and Child Health Hospital, 518000 Shenzhen, Guangdong, ChinaBackground: We aimed to analyze mutations of the pathogenic gene in dyssegmental dysplasia Silverman-Handmaker (DDSH) type associated with the Heparin sulfate proteoglycan 2 (HSPG2) gene. Case: Prenatal testing for genetic mutations associated with fetal DDSH were performed on a pregnant woman with previous history of carrying a fetus with short limb malformation at the 17th week of gestation. DNA was extracted from amniotic fluid and next-generation sequencing-based deep panel sequencing was performed on the Illumina NextSeq platform to identify possible causative mutations of DDSH. Results: Two novel heterozygous mutations in HSPG2 gene, c.6001dupC (p. R2001pfs*19) and c.11207G>A (p. R373Q), were identified and associated with the DDSH diagnosis. Conclusion: This is the first report to prenatally identify novel mutations in HSPG2 that confirms a DDSH diagnosis.https://www.imrpress.com/journal/CEOG/49/2/10.31083/j.ceog4902037heparin sulfate proteoglycan 2dyssegmental dysplasia silverman-handmakergene mutationprenatal diagnosis |
| spellingShingle | Yunxia Wang Hui Wang Prenatal identification of novel HSPG2 variants associated with dyssegmental dysplasia Silverman-Handmaker type Clinical and Experimental Obstetrics & Gynecology heparin sulfate proteoglycan 2 dyssegmental dysplasia silverman-handmaker gene mutation prenatal diagnosis |
| title | Prenatal identification of novel HSPG2 variants associated with dyssegmental dysplasia Silverman-Handmaker type |
| title_full | Prenatal identification of novel HSPG2 variants associated with dyssegmental dysplasia Silverman-Handmaker type |
| title_fullStr | Prenatal identification of novel HSPG2 variants associated with dyssegmental dysplasia Silverman-Handmaker type |
| title_full_unstemmed | Prenatal identification of novel HSPG2 variants associated with dyssegmental dysplasia Silverman-Handmaker type |
| title_short | Prenatal identification of novel HSPG2 variants associated with dyssegmental dysplasia Silverman-Handmaker type |
| title_sort | prenatal identification of novel hspg2 variants associated with dyssegmental dysplasia silverman handmaker type |
| topic | heparin sulfate proteoglycan 2 dyssegmental dysplasia silverman-handmaker gene mutation prenatal diagnosis |
| url | https://www.imrpress.com/journal/CEOG/49/2/10.31083/j.ceog4902037 |
| work_keys_str_mv | AT yunxiawang prenatalidentificationofnovelhspg2variantsassociatedwithdyssegmentaldysplasiasilvermanhandmakertype AT huiwang prenatalidentificationofnovelhspg2variantsassociatedwithdyssegmentaldysplasiasilvermanhandmakertype |