RNU4-2基因突变的成人受试者的严重骨质疏松症

IF 3.3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM
Joshua Peñafiel-Sam, Irene Valenzuela, Pilar Peris
{"title":"RNU4-2基因突变的成人受试者的严重骨质疏松症","authors":"Joshua Peñafiel-Sam, Irene Valenzuela, Pilar Peris","doi":"10.1007/s00223-025-01351-3","DOIUrl":null,"url":null,"abstract":"<p><p>Recent studies have shown that RNU4-2 pathogenic gene variants are among the most frequent causes of monogenic neurodevelopmental disorders. We present an adult patient with a pathogenic variant in the RNU4-2 gene associated with the presence of severe osteoporosis. A 19-year-old male diagnosed with ReNU syndrome after years of extensive evaluation for a history of developmental delay, seizures, and hearing loss, was referred to our department for osteoporosis evaluation, presenting spontaneous humeral fracture at age 16, and a low-impact fibular fracture at age 8. Physical examination showed microcephaly, hypotelorism, thoracic asymmetry, and mild scoliosis, without bone tenderness. Extensive laboratory investigations, including hormonal study, excluded additional secondary causes of osteoporosis. Bone turnover markers were increased and dual-energy X-ray absorptiometry confirmed the presence of low bone mass (with a Z-score of - 1.9 in the lumbar spine, - 3.5 in the femoral neck, and - 3.7 in the total femur). Therapy with zoledronate acid was indicated. These observations suggests that ReNU syndrome includes bone disease in the clinical manifestations. Subjects with RNU4.2 mutations may present associated osteoporosis, indicating the need to evaluate the presence of bone disease in these individuals.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"40"},"PeriodicalIF":3.3000,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Severe Osteoporosis in an Adult Subject with RNU4-2 Gene Mutation.\",\"authors\":\"Joshua Peñafiel-Sam, Irene Valenzuela, Pilar Peris\",\"doi\":\"10.1007/s00223-025-01351-3\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Recent studies have shown that RNU4-2 pathogenic gene variants are among the most frequent causes of monogenic neurodevelopmental disorders. We present an adult patient with a pathogenic variant in the RNU4-2 gene associated with the presence of severe osteoporosis. A 19-year-old male diagnosed with ReNU syndrome after years of extensive evaluation for a history of developmental delay, seizures, and hearing loss, was referred to our department for osteoporosis evaluation, presenting spontaneous humeral fracture at age 16, and a low-impact fibular fracture at age 8. Physical examination showed microcephaly, hypotelorism, thoracic asymmetry, and mild scoliosis, without bone tenderness. Extensive laboratory investigations, including hormonal study, excluded additional secondary causes of osteoporosis. Bone turnover markers were increased and dual-energy X-ray absorptiometry confirmed the presence of low bone mass (with a Z-score of - 1.9 in the lumbar spine, - 3.5 in the femoral neck, and - 3.7 in the total femur). Therapy with zoledronate acid was indicated. These observations suggests that ReNU syndrome includes bone disease in the clinical manifestations. Subjects with RNU4.2 mutations may present associated osteoporosis, indicating the need to evaluate the presence of bone disease in these individuals.</p>\",\"PeriodicalId\":9601,\"journal\":{\"name\":\"Calcified Tissue International\",\"volume\":\"116 1\",\"pages\":\"40\"},\"PeriodicalIF\":3.3000,\"publicationDate\":\"2025-02-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Calcified Tissue International\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s00223-025-01351-3\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Calcified Tissue International","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00223-025-01351-3","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0

摘要

最近的研究表明,RNU4-2致病基因变异是单基因神经发育障碍最常见的原因之一。我们提出了一个成年患者的致病变异在RNU4-2基因与严重骨质疏松症的存在。一名19岁男性患者在经过多年的发育迟缓、癫痫发作和听力损失的广泛评估后被诊断为ReNU综合征,他被转介到我科进行骨质疏松症评估,在16岁时表现为自发性肱骨骨折,在8岁时表现为低冲击腓骨骨折。体格检查显示:小头畸形,下睑下垂,胸部不对称,轻度脊柱侧凸,无骨压痛。广泛的实验室调查,包括激素研究,排除了骨质疏松症的其他继发性原因。骨转换标志物增加,双能x线骨密度仪证实存在低骨量(腰椎z - 1.9,股骨颈- 3.5,全股骨- 3.7)。采用唑来膦酸治疗。这些观察结果提示,ReNU综合征的临床表现包括骨病。RNU4.2突变的受试者可能出现相关的骨质疏松症,表明有必要评估这些个体是否存在骨病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Severe Osteoporosis in an Adult Subject with RNU4-2 Gene Mutation.

Recent studies have shown that RNU4-2 pathogenic gene variants are among the most frequent causes of monogenic neurodevelopmental disorders. We present an adult patient with a pathogenic variant in the RNU4-2 gene associated with the presence of severe osteoporosis. A 19-year-old male diagnosed with ReNU syndrome after years of extensive evaluation for a history of developmental delay, seizures, and hearing loss, was referred to our department for osteoporosis evaluation, presenting spontaneous humeral fracture at age 16, and a low-impact fibular fracture at age 8. Physical examination showed microcephaly, hypotelorism, thoracic asymmetry, and mild scoliosis, without bone tenderness. Extensive laboratory investigations, including hormonal study, excluded additional secondary causes of osteoporosis. Bone turnover markers were increased and dual-energy X-ray absorptiometry confirmed the presence of low bone mass (with a Z-score of - 1.9 in the lumbar spine, - 3.5 in the femoral neck, and - 3.7 in the total femur). Therapy with zoledronate acid was indicated. These observations suggests that ReNU syndrome includes bone disease in the clinical manifestations. Subjects with RNU4.2 mutations may present associated osteoporosis, indicating the need to evaluate the presence of bone disease in these individuals.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Calcified Tissue International
Calcified Tissue International 医学-内分泌学与代谢
CiteScore
8.00
自引率
2.40%
发文量
112
审稿时长
4-8 weeks
期刊介绍: Calcified Tissue International and Musculoskeletal Research publishes original research and reviews concerning the structure and function of bone, and other musculoskeletal tissues in living organisms and clinical studies of musculoskeletal disease. It includes studies of cell biology, molecular biology, intracellular signalling, and physiology, as well as research into the hormones, cytokines and other mediators that influence the musculoskeletal system. The journal also publishes clinical studies of relevance to bone disease, mineral metabolism, muscle function, and musculoskeletal interactions.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信