Types and frequencies of gene variants in idiopathic short stature children

LIANG Yijia; WU Honglin; HE Xiumei; HU Xiaohong; HE Xiyu

doi:10.11852/zgetbjzz2023-0202

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Chinese Journal of Child Health Care ›› 2023, Vol. 31 ›› Issue (6) : 678-683. DOI: 10.11852/zgetbjzz2023-0202

Clinical Research

Types and frequencies of gene variants in idiopathic short stature children

LIANG Yijia¹, WU Honglin², HE Xiumei², HU Xiaohong³, HE Xiyu^1,2

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Abstract

Objective To analyze the types and frequency of genetic variation in children with idiopathic short stature (ISS), in order to provide new ideas for the diagnosis and treatment of ISS. Methods Clinical data of 208 children with ISS in the pediatric endocrinology outpatient of the Fourth and the Fifth Medical Center of PLA General Hospital from July 2017 to July 2022 were retrospectively analyzed, and genetic analysis was performed on patients with suspicious genetic variation to explore the potential genetic pathological mechanism. Results Among 208 children with ISS, 22 children showed suspicious genetic variation through preliminary screening and genetic analysis. Seven types of genetic variation in 8 children with genetic variation were detected by whole exon sequencing and copy number variation analysis techniques, including variations in FGD1, FGFR1, ACAN, SLC26A4, CREBBP, ACTB and KAT6A. The cumulative detection rate of genetic variation in patients with idiopathic short stature was about 3.85%, and the diagnosis rate by genetic analysis was about 36.4% in patients with clinically suspected genetic variation. Conclusions The occurrence of ISS is closely related to genetic variation. Through clinical characterization analysis and molecular genetics detection, different types of genetic variation related to growth plate development can be found, which can help to clarify the etiology of ISS.

Key words

idiopathic short stature / growth plate / genetic analysis / genetic variation

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LIANG Yijia, WU Honglin, HE Xiumei, HU Xiaohong, HE Xiyu. Types and frequencies of gene variants in idiopathic short stature children[J]. Chinese Journal of Child Health Care. 2023, 31(6): 678-683 https://doi.org/10.11852/zgetbjzz2023-0202

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