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Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing
Erika Nakajima1, Yuko Yokohama2, Saori Sugiyama1
1Department of Obstetrics and Gynecology, Asahikawa-Kosei General Hospital, 1-24-111, Ichijo-dori, Asahikawa, Hokkaido, Japan.
Human Genome Variation
|December 2, 2024
Summary
Short-rib thoracic dysplasia (SRTD) with polydactyly can present with unusual bone defects. Genetic analysis identified DYNC2H1 gene variants, underscoring the need for genetic testing in diagnosing skeletal dysplasias.
Area of Science:
- Medical Genetics
- Skeletal Dysplasias
- Fetal Development
Background:
- Short-rib thoracic dysplasia (SRTD) is a group of severe skeletal disorders.
- Phenotypic variability within SRTD poses diagnostic challenges.
- Atypical acro-mesomelic ossification defects are not commonly associated with SRTD.
Purpose of the Study:
- To report a rare case of SRTD with polydactyly and severe acro-mesomelic ossification defects.
- To identify the genetic cause of the observed phenotype.
- To highlight diagnostic complexities in SRTD.
Main Methods:
- Clinical case presentation.
- Genetic analysis using massively parallel sequencing (MPS) of a skeletal dysplasia gene panel.
- Identification and characterization of genetic variants.
Main Results:
- The fetus presented with SRTD, polydactyly, and severe acro-mesomelic ossification defects.
- Compound heterozygous variants in the DYNC2H1 gene were identified.
- DYNC2H1 is implicated in skeletal development and ciliopathies.
Conclusions:
- This case expands the known phenotypic spectrum of SRTD.
- Genetic analysis with targeted gene panels is crucial for accurate diagnosis of skeletal dysplasias.
- DYNC2H1 variants should be considered in fetuses with complex skeletal abnormalities.
