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J Pediatr Genet
DOI: 10.1055/s-0044-1800809
Case Based Review

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

Jun Sun
1   Department of Endocrinology, Metabolism and Genetics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China
,
Ya Xiao
1   Department of Endocrinology, Metabolism and Genetics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China
,
Shu-qin Jiang
1   Department of Endocrinology, Metabolism and Genetics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China
,
Yi-fan Wang
1   Department of Endocrinology, Metabolism and Genetics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China
,
Hong-ru Zhang
1   Department of Endocrinology, Metabolism and Genetics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China
,
Wei Wang
1   Department of Endocrinology, Metabolism and Genetics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China
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Funding None.
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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.

Keywords

non-growth hormone-deficient short stature - Epha4 gene - insulin-like growth factor-1 - deletion of chromosome 2

Ethical Approval

This study has been approved by the ethics committee of the Third Affiliated Hospital of Zhengzhou University with the ethics approval number 2023-257-01, dated 2023-10-13.




Publication History

Received: 26 December 2023

Accepted: 07 November 2024

Article published online:
04 December 2024

© 2024. Thieme. All rights reserved.

Georg Thieme Verlag KG
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