Molecular Genetic Analysis and Growth Hormone Treatment in a Three-Generation Chinese Family with Tricho-Rhino-Phalangeal Syndrome I
Authors' conclusion
The variant of c.880_882delAAG in TRPS1 was responsible for the pathogenesis of the Chinese family with TRPS I. The treatment of GH could be beneficial for the height outcome in TRPS I patients, and earlier initiation and longer duration of the therapy in prepubertal or early pubertal stage could be associated with better height outcomes.
Study context
- Population
- Three-generation Chinese family with tricho-rhino-phalangeal syndrome I
- Outcome
- Genetic variant and functional effect
Methodological detailsthree-generation family, whole-exome sequencing, Sanger validation, in vitro functional studies
- Three-generation family
- Whole-exome sequencing
- Sanger validation
- In vitro functional studies
Main finding
As reported in the abstract
- TRPS1 c.880_882delAAG variant identified in affected family members by whole-exome sequencing (WES) and Sanger sequencing
- Variant did not affect cellular localization or expression of TRPS1, but disturbed TRPS1 transcriptional repression of RUNX2 and STAT3
Observational data: associations, not effects.
Further findings
Linear growth on GH treatment (proband and his brother) · 2 years
- Improvement of linear growth observed in both
Original publication
Molecular Genetic Analysis and Growth Hormone Treatment in a Three-Generation Chinese Family with Tricho-Rhino-Phalangeal Syndrome I. Horm Res Paediatr. Published 29 March 2023. doi:10.
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