A Novel Homozygous Synonymous Variant in CCDC134 as a Cause of Osteogenesis Imperfecta Type XXII

成骨不全 遗传学 牙本质形成不全 错义突变 外显子 桑格测序 身材矮小 外显子组测序 联机孟德尔在人类中的遗传 生物 基因 表型 医学 突变 病理 内分泌学
作者
Haiping Ning,Cuili Liang,Huifen Mei,Dejian Yuan,Xiaobao Wei,Xiaofeng Huang,Dongdong Tan,Jianqiang Tan
出处
期刊:Clinical Genetics [Wiley]
标识
DOI:10.1111/cge.14664
摘要

ABSTRACT Osteogenesis imperfecta (OI) is a heterogeneous group of rare, inherited connective tissue disorders. It includes over 20 defined subtypes, each of which is associated with distinct causative genes that are listed in the Online Mendelian Inheritance in Man (OMIM) database. Type XXII OI (OI 22) is caused by a homozygous variant in the coiled‐coil domain containing 134 ( CCDC134 ) gene, which is located on chromosome 22q13. OI, which is associated with CCDC134, is extremely rare with only five cases reported worldwide. All known cases involve the c.2 T > C (p. Met1Thr) homozygous missense variant in the CCDC134 gene. We present the case of a 13‐year‐old Chinese girl with non‐union fracture, short stature and specific radiographic findings, which include scoliosis, pelvic tilt, thin clavicles, ribs, and limbs. Whole exome sequencing revealed a novel, homozygous c.492G > C (p. Leu164=) variation in the CCDC134 gene. RNA sequencing (RNA‐seq) analysis identified this variant as an abnormal splicing variant that causes the deletion of Exon 5, which result in the observed disease phenotype. This case demonstrates the clinical phenotype of OI 22 associated with the c.492G > C (p. Leu164=) novel synonymous variation in the coding region of the CCDC134 gene in a female patient. This is the first reported case of OI 22 in the Chinese population, the sixth reported worldwide and the fourth reported genotype for diseases associated with a CCDC134 variant. It also enriches the global clinical phenotype spectrum of OI 22 patients.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
刚刚
雪糕头完成签到,获得积分10
刚刚
1秒前
佳佳完成签到,获得积分10
1秒前
斯文败类应助pursue采纳,获得10
1秒前
东方完成签到,获得积分10
2秒前
sbrcpyf发布了新的文献求助10
2秒前
丰丰完成签到,获得积分20
2秒前
hull发布了新的文献求助30
2秒前
Ybaci7发布了新的文献求助30
2秒前
3秒前
3秒前
皮夏寒发布了新的文献求助10
3秒前
沉默的凝荷完成签到,获得积分10
3秒前
qy关闭了qy文献求助
4秒前
ZJH完成签到,获得积分20
4秒前
王文茹发布了新的文献求助10
4秒前
hx完成签到,获得积分10
5秒前
5秒前
星许发布了新的文献求助10
5秒前
5秒前
klicking完成签到,获得积分10
5秒前
6秒前
Bowingyang应助福尔摩云采纳,获得200
7秒前
7秒前
Dore发布了新的文献求助10
7秒前
7秒前
菠菜发布了新的文献求助30
8秒前
宋磊发布了新的文献求助10
8秒前
张熙媛发布了新的文献求助10
8秒前
宸一完成签到,获得积分10
8秒前
8秒前
打打应助xxx采纳,获得10
8秒前
酷波er应助小劳采纳,获得10
9秒前
皮夏寒完成签到,获得积分10
9秒前
hah发布了新的文献求助20
9秒前
顾矜应助小陶采纳,获得10
9秒前
9秒前
Jasper应助摇光采纳,获得10
10秒前
10秒前
高分求助中
Production Logging: Theoretical and Interpretive Elements 2700
Mechanistic Modeling of Gas-Liquid Two-Phase Flow in Pipes 2500
Kelsen’s Legacy: Legal Normativity, International Law and Democracy 1000
Handbook on Inequality and Social Capital 800
Conference Record, IAS Annual Meeting 1977 610
Interest Rate Modeling. Volume 3: Products and Risk Management 600
Interest Rate Modeling. Volume 2: Term Structure Models 600
热门求助领域 (近24小时)
化学 材料科学 生物 医学 工程类 有机化学 生物化学 物理 纳米技术 计算机科学 内科学 化学工程 复合材料 基因 遗传学 物理化学 催化作用 量子力学 光电子学 冶金
热门帖子
关注 科研通微信公众号,转发送积分 3546888
求助须知:如何正确求助?哪些是违规求助? 3123917
关于积分的说明 9357332
捐赠科研通 2822504
什么是DOI,文献DOI怎么找? 1551513
邀请新用户注册赠送积分活动 723546
科研通“疑难数据库(出版商)”最低求助积分说明 713791