Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing
Abstract We report a case of a fetus with short-rib thoracic dysplasia (SRTD) with polydactyly that also presented with atypical severe acro-mesomelic ossification defects. Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel revealed compound heterozygous variants in D...
| Príomhchruthaitheoirí: | , , , , , , , , , |
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| Formáid: | Alt |
| Teanga: | English |
| Foilsithe / Cruthaithe: |
Nature Publishing Group
2024-12-01
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| Sraith: | Human Genome Variation |
| Rochtain ar líne: | https://doi.org/10.1038/s41439-024-00302-y |
| _version_ | 1826863610216841216 |
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| author | Erika Nakajima Yuko Yokohama Saori Sugiyama Mio Taketazu Kenrokuro Mitsube Takahiro Yamada Anna Hammarsjö Giedre Grigelioniene Gen Nishimura Yoshio Makita |
| author_facet | Erika Nakajima Yuko Yokohama Saori Sugiyama Mio Taketazu Kenrokuro Mitsube Takahiro Yamada Anna Hammarsjö Giedre Grigelioniene Gen Nishimura Yoshio Makita |
| author_sort | Erika Nakajima |
| collection | DOAJ |
| description | Abstract We report a case of a fetus with short-rib thoracic dysplasia (SRTD) with polydactyly that also presented with atypical severe acro-mesomelic ossification defects. Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel revealed compound heterozygous variants in DYNC2H1. This clinical report highlights the challenges associated with diagnosing the diverse phenotypes in the SRTD group and emphasizes the importance of genetic surveillance with a targeted gene panel for accurate diagnosis. |
| first_indexed | 2025-02-16T21:02:15Z |
| format | Article |
| id | doaj.art-d24cdf2acb6a46a0b51a559d8e90efb2 |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2025-02-16T21:02:15Z |
| publishDate | 2024-12-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-d24cdf2acb6a46a0b51a559d8e90efb22025-01-19T12:15:38ZengNature Publishing GroupHuman Genome Variation2054-345X2024-12-011111310.1038/s41439-024-00302-yUnclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencingErika Nakajima0Yuko Yokohama1Saori Sugiyama2Mio Taketazu3Kenrokuro Mitsube4Takahiro Yamada5Anna Hammarsjö6Giedre Grigelioniene7Gen Nishimura8Yoshio Makita9Department of Obstetrics and Gynecology, Asahikawa-Kosei General HospitalDepartment of Perinatal Medical Center, Asahikawa Medical University HospitalDepartment of Obstetrics and Gynecology, Asahikawa-Kosei General HospitalDepartment of Pediatrics, Asahikawa-Kosei General HospitalDepartment of Obstetrics and Gynecology, Asahikawa-Kosei General HospitalDivision of Clinical Genetics, Hokkaido University HospitalDepartment of Molecular Medicine and Surgery, Karolinska InstitutetDepartment of Molecular Medicine and Surgery, Karolinska InstitutetDepartment of Radiology, Musashino-Yowakai HospitalDepartment of Genetic Counseling, Asahikawa Medical University HospitalAbstract We report a case of a fetus with short-rib thoracic dysplasia (SRTD) with polydactyly that also presented with atypical severe acro-mesomelic ossification defects. Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel revealed compound heterozygous variants in DYNC2H1. This clinical report highlights the challenges associated with diagnosing the diverse phenotypes in the SRTD group and emphasizes the importance of genetic surveillance with a targeted gene panel for accurate diagnosis.https://doi.org/10.1038/s41439-024-00302-y |
| spellingShingle | Erika Nakajima Yuko Yokohama Saori Sugiyama Mio Taketazu Kenrokuro Mitsube Takahiro Yamada Anna Hammarsjö Giedre Grigelioniene Gen Nishimura Yoshio Makita Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing Human Genome Variation |
| title | Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing |
| title_full | Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing |
| title_fullStr | Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing |
| title_full_unstemmed | Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing |
| title_short | Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing |
| title_sort | unclassifiable short rib thoracic dysplasia diagnosed using targeted gene panel sequencing |
| url | https://doi.org/10.1038/s41439-024-00302-y |
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