Summary

Identifying the genetic cause for short stature can guide treatment, allow early screening and supportive therapy for associated features, and inform familial recurrence. We retrospectively assessed the results of multigene panel testing for 744 individuals who received the Comprehensive Short Stature Syndrome Panel at Blueprint Genetics and provided an overview of the positive genetic findings identified in this population. From this analysis, we identified

• Nearly 11% of patients in this cohort received a positive result, including a non-coding variant and copy number variants. ​ 

• The most frequent positive results were associated with autosomal dominant RASopathies and autosomal dominant FGFR3-related conditions. 

• Positive results included copy number variants, such as deletions involving the SHOX gene, and a noncoding variant in the GHR gene.  

This demonstrates the benefit of multigene panel testing for individuals with suspected monogenic short stature and highlights the utility of robust CNV analysis and targeting disease-associated noncoding variants. 

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Authors:

• Johanna Huusko, Alicia Scocchia, Kaisa Kyöstilä, Lilí Gallo Ramirez, Liisa Pelttari, Satu Valo, Riitta Lindström, Cindy Si, Kimberly Gall, Inka Saarinen, Mikko Muona, Tuuli Pietilä, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Eija Seppälä, Sari Tuupanen, Lotta Koskinen, Tiia Kangas-Kontio, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo

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