Analysis of Genetic Factors in a Family With Short Stature

ABSTRACT Background To elucidate the genetic underpinnings of short stature in a familial cohort of five individuals. Methods A family with a history of short stature from Zhongnan Hospital of Wuhan University was the subject of this study. Peripheral blood samples were collected from family members for whole exome sequencing and Sanger sequencing to identify genetic anomalies. Results The male proband, aged 3 years and 10 months, had significant growth retardation, with a height of 91 cm (A) was detected in the father and grandfather, contributing to the familial short stature phenotype. Conclusion In this family, we identified that variants in the COL1A2 and the GH1 can each cause short stature. This reflects both the genetic consistency and complexity of short stature, which is highly dependent on comprehensive genetic testing.