Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience.

IF 2.8 Q3 ENDOCRINOLOGY & METABOLISM

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-01 Epub Date: 2024-02-29 DOI:10.6065/apem.2346036.018

Su Jin Kim, Eunyoung Joo, Jisun Park, Chang Ahn Seol, Ji-Eun Lee

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引用次数: 0

Abstract

Purpose: We used next-generation sequencing (NGS) to investigate the genetic causes of suspected genetic short stature in 37 patients, and we describe their phenotypes and various genetic spectra.

Methods: We reviewed the medical records of 50 patients who underwent genetic testing using NGS for suspected genetic short stature from June 2019 to December 2022. Patients with short stature caused by nongenetic factors or common chromosomal abnormalities were excluded. Thirty-seven patients from 35 families were enrolled in this study. We administered one of three genetic tests (2 targeted panel tests or whole exome sequencing) to patients according to their phenotypes.

Results: Clinical and molecular diagnoses were confirmed in 15 of the 37 patients, for an overall diagnostic yield of 40.5%. Fifteen pathogenic/likely pathogenic variants were identified in 13 genes (ACAN, ANKRD11, ARID1B, CEP152, COL10A1, COL1A2, EXT1, FGFR3, NIPBL, NRAS, PTPN11, SHOX, SLC16A2). The diagnostic rate was highest in patients who were small for their gestational age (7 of 11, 63.6%).

Conclusion: Genetic evaluation using NGS can be helpful in patients with suspected genetic short stature who have clinical and genetic heterogeneity. Further studies are needed to develop patient selection algorithms and panels containing growth-related genes.

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利用新一代测序技术对身材矮小儿童进行遗传评估：一家三级医疗中心的经验。

目的：我们使用下一代测序（NGS）研究了37例疑似遗传性矮身材患者的遗传原因，并描述了他们的表型和各种遗传谱：我们回顾了 2019 年 6 月至 2022 年 12 月期间因疑似遗传性矮身材而使用 NGS 进行基因检测的 50 名患者的病历。排除了由非遗传因素或常见染色体异常引起的身材矮小患者。来自 35 个家庭的 37 名患者参加了本研究。我们根据患者的表型对其进行了三种基因检测中的一种（2种靶向面板检测或全外显子组测序）：结果：37 名患者中有 15 人的临床和分子诊断得到证实，总诊断率为 40.5%。在13个基因（ACAN、ANKRD11、ARID1B、CEP152、COL10A1、COL1A2、EXT1、FGFR3、NIPBL、NRAS、PTPN11、SHOX、SLC16A2）中发现了15个致病/可能致病变体。胎龄小的患者诊断率最高（11 例中有 7 例，占 63.6%）：结论：使用 NGS 进行遗传评估有助于临床和遗传异质性的疑似遗传性矮身材患者。需要进一步研究开发患者选择算法和包含生长相关基因的基因组。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Annals of Pediatric Endocrinology & Metabolism Multiple-

CiteScore

4.00

自引率

18.20%

发文量

审稿时长

24 weeks

期刊介绍： The Annals of Pediatric Endocrinology & Metabolism Journal is the official publication of the Korean Society of Pediatric Endocrinology. Its formal abbreviated title is “Ann Pediatr Endocrinol Metab”. It is a peer-reviewed open access journal of medicine published in English. The journal was launched in 1996 under the title of ‘Journal of Korean Society of Pediatric Endocrinology’ until 2011 (pISSN 1226-2242). Since 2012, the title is now changed to ‘Annals of Pediatric Endocrinology & Metabolism’. The Journal is published four times per year on the last day of March, June, September, and December. It is widely distributed for free to members of the Korean Society of Pediatric Endocrinology, medical schools, libraries, and academic institutions. The journal is indexed/tracked/covered by web sites of PubMed Central, PubMed, Emerging Sources Citation Index (ESCI), Scopus, EBSCO, EMBASE, KoreaMed, KoMCI, KCI, Science Central, DOI/CrossRef, Directory of Open Access Journals(DOAJ), and Google Scholar. The aims of Annals of Pediatric Endocrinology & Metabolism are to contribute to the advancements in the fields of pediatric endocrinology & metabolism through the scientific reviews and interchange of all of pediatric endocrinology and metabolism. It aims to reflect the latest clinical, translational, and basic research trends from worldwide valuable achievements. In addition, genome research, epidemiology, public education and clinical practice guidelines in each country are welcomed for publication. The Journal particularly focuses on research conducted with Asian-Pacific children whose genetic and environmental backgrounds are different from those of the Western. Area of specific interest include the following : Growth, puberty, glucose metabolism including diabetes mellitus, obesity, nutrition, disorders of sexual development, pituitary, thyroid, parathyroid, adrenal cortex, bone or other endocrine and metabolic disorders from infancy through adolescence.