Akademik Veri Yönetim Sistemi
European Human Genetics Conference, Berlin, Almanya, 1 - 04 Haziran 2024, ss.1
Background/Objectives: Short stature is defined as height below the 3rd percentile and
growth rate below the 25th percentile. Short stature is related to genetic, chromosomal, single
gene, and multifactorial factors. This study aims to investigate and elucidate the genetic
etiology of short stature.
Methods: In this study, in order to elucidate the genetic etiology of 10 clinically diagnosed
short stature patients with unknown underlying causes were evaluated with cytogenetic and
molecular tests. Patients who had normal karyotypes were included to the analysis of 25 genes
(BMP4, FGF8, FGFR1, GH1, GHR, GHRH, GHSR, HESX1, HHIP, IGF1, IGF1R, IGFALS,
IGFBP3, IGSF1, LHX3, LHX4, OTX2, POU1F1, PROKR2, PROP1, SHH, SHOX, SOX3,
STAT5B, WDR11) which was carried out on the Ion Torrent platform. Mutations that were
thought to have clinical importance were confirmed by Sanger sequencing.
Results: A likely pathogenic novel variant was found at c.412G>T in the SHOX gene of one
case and confirmed by Sanger sequencing. Additionally, a pathogenic variant was detected at
c.1439del in the WDR11 gene. As a result of the research comparing the reading quality of the
variant with each case, it was concluded that it was a fake variant. Additionally, VUS variants
were detected in four genes in three cases.
Conclusion: Since short stature has wide genetic background, a gene panel is not sufficient,
and a proper approach would be to investigate index individuals, their parents, and healthy
controls using whole exome or whole genome sequencing.