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Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis
Ist Teil von
Frontiers in pediatrics, 2023-09, Vol.11
Ort / Verlag
Frontiers Media S.A
Erscheinungsjahr
2023
Link zum Volltext
Quelle
EZB Electronic Journals Library
Beschreibungen/Notizen
Background
Spondylocostal dysostosis is a rare genetic disorder caused by mutations in
DLL3
,
MESP2
,
LFNG
,
HES7
,
TBX6
, and
RIPPLY2
. A particular form of this disorder characterized by the association of spondylocostal dysostosis with multiple pterygia has been reported and called spondylospinal thoracic dysostosis. Both disorders affect the spine and ribs, leading to abnormal development of the spine. Spondylospinal thoracic dysostosis is a rare syndrome characterized by the association of multiple vertebral segmentation defects, thoracic cage deformity, and multiple pterygia. This syndrome can be considered a different form of the described spondylocostal dysostosis. However, no genetic testing has been conducted for this rare disorder so far.
Methods
We report here the case of an 18-month-old female patient presenting the clinical and radiological features of spondylospinal thoracic dysostosis. To determine the underlying genetic etiology, whole exome sequencing (WES) and Sanger sequencing were performed.
Results
Using WES, we identified a variant in the
TPM2
gene c. 628C>T, already reported in the non-lethal form of multiple pterygium syndrome. In addition, following the analysis of WES data, using bioinformatic tools, for oligogenic diseases, we identified candidate modifier genes,
CAP2
and
ADCY6
, that could impact the clinical manifestations.
Conclusion
We showed a potential association between
TPM2
and the uncommon spondylocostal dysostosis phenotype that would require further validation on larger cohort.