A Child with Non-Growth Hormone-Deficient Short Stature with Chromosome 2 Deletion of 2q35-36.1: A Case Report and Literature Review of Haploinsufficiency of Epha4 Gene

Authors

Jun Sun, Department of Endocrinology, Metabolism and Genetics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China
Ya Xiao, Department of Endocrinology, Metabolism and Genetics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China
Shu-Qin Jiang, Department of Endocrinology, Metabolism and Genetics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China
Yi-Fan Wang, Department of Endocrinology, Metabolism and Genetics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China
Hong-Ru Zhang, Department of Endocrinology, Metabolism and Genetics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China
Wei Wang, Department of Endocrinology, Metabolism and Genetics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, ChinaFollow

Abstract

Non-growth hormone-deficient short stature is a group of growth developmental disorders with complex pathophysiological mechanisms involving multiple pathways, including abnormalities in the growth hormone/insulin-like growth factor 1 signal pathway. We report a 4-year-old girl with severe growth and developmental delay: her height was 91 cm (<–3 standard deviation [SD]), and her growth rate was 3 to 4 cm/year (<–2 SD). Growth hormone stimulation tests indicated a normal peak growth hormone level (11.1 μg/L), while insulin-like growth factor-1 levels were reduced (7.98 nmol/L, <–1SD). Whole exome sequencing and copy number variation analysis revealed a 3.19 Mb deletion at 2q35-q36.1 on chromosome 2, encompassing all coding regions of the Epha4 gene. This study suggests an association between Epha4 gene deletion and non-growth hormone-deficient short stature, highlighting the importance of further research on this gene and its related signaling pathways to understand the molecular mechanisms of the disease and potential therapeutic approaches.

Recommended Citation

Sun, Jun; Xiao, Ya; Jiang, Shu-Qin; Wang, Yi-Fan; Zhang, Hong-Ru; and Wang, Wei (2025) "A Child with Non-Growth Hormone-Deficient Short Stature with Chromosome 2 Deletion of 2q35-36.1: A Case Report and Literature Review of Haploinsufficiency of Epha4 Gene," Journal of Pediatric Genetics: Vol. 14: Iss. 1, Article 6.
Available at: https://jpg.researchcommons.org/journal/vol14/iss1/6