Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing
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.
Authors
- Yoshio Makita (ORCID: https://orcid.org/0000-0002-0341-5709)
- Saori Sugiyama
- Mio Taketazu (ORCID: https://orcid.org/0000-0002-6593-1485)
- Gen Nishimura (ORCID: https://orcid.org/0000-0003-0557-230X)
- Giedré Grigelioniené (ORCID: https://orcid.org/0000-0001-9601-3137)
- Yuko Yokohama (ORCID: https://orcid.org/0009-0006-2669-8963)
- Anna Hammarsjö (ORCID: https://orcid.org/0000-0001-6585-0944)
- Takahiro Yamada (ORCID: https://orcid.org/0000-0002-5370-7873)
- Erika Nakajima
- Kenrokuro Mitsube
Institutions
- Asahikawa Medical College Hospital (JP)
- Karolinska University Hospital (SE)
- Asahikawa Medical University (JP)
- Hokkaido University (JP)
- Musashino Academia Musicae (JP)
- Karolinska Institutet (SE)
- Yokufukai Hospital (JP)
- Hokkaido University Hospital (JP)
- Asahikawa Kosei Hospital (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2024-12-03
- DOI
- https://doi.org/10.1038/s41439-024-00302-y
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Stiftelsen Promobilia
- Ministry of Health, Labour and Welfare
- Karolinska Institutet
- Vetenskapsrådet
- Stiftelsen Frimurare Barnhuset i Stockholm
- Science for Life Laboratory
- Sällskapet Barnavård