Department of Endocrinology, Key Laboratory of Endocrinology of National Health Commission, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Department of Endocrinology and Metabolism, Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing, China.
Endocrine. 2023 Jun;80(3):658-668. doi: 10.1007/s12020-023-03303-z. Epub 2023 Feb 2.
We reported a case with carbohydrate sulfotransferase 3 (CHST3) spondyloepiphyseal dysplasia and made a systematic review of all previously reported cases.
A 14.8-year-old boy underwent clinical, radiological, and genetic evaluations. The patients and five age-matched healthy boys accepted high-resolution peripheral quantitative computed tomography evaluation. All CHST3-related skeletal dysplasia cases from PubMed and Embase were collected and summarized. The genotype-phenotype correlation was analyzed.
The proband complained of aggravated joint pain and had a compression fracture of L2 during his second decade. Physical examination showed a height Z score of -4.94, short limbs, and restricted movement of the elbows and knees. X-rays showed carpal epiphyseal dysplasia, enlargement of elbow and knee joints, and subluxation of the left hip. Echocardiography showed abnormal cardiac valves. Compared with the norm, his total and trabecular volumetric bone mineral density (BMD), and the microarchitecture of the trabecular bone had trends to be worse at the distal radius and tibia. Two novel missense variants of c.1343T>G and c.761C>G in CHST3 were inherited from his father and mother, respectively. In the systematic review, short stature, limited joint extension, joint pain, and joint dislocation were the most common characteristics of this disorder. Height Z score and the proportion of hearing impairment had no significant differences between the missense and nonmissense mutations groups.
Progressive joint pain and movement restriction are the main characteristics of CHST3-related skeletal dysplasia. BMD and bone microarchitecture of this disorder needs further exploration. There is no apparent genotype-phenotype correlation in this disorder.
我们报告了一例碳水化合物磺基转移酶 3（CHST3）脊椎干骺端发育不良病例，并对所有先前报道的病例进行了系统回顾。
对 14.8 岁男孩进行了临床、放射学和遗传学评估。患者和五名年龄匹配的健康男孩接受了高分辨率外周定量计算机断层扫描评估。收集并总结了来自 PubMed 和 Embase 的所有与 CHST3 相关的骨骼发育不良病例，并进行了基因型-表型相关性分析。
先证者在第二个十年期间主诉关节疼痛加剧，并发生 L2 压缩性骨折。体格检查显示身高 Z 评分为-4.94，四肢短小，肘部和膝关节活动受限。X 射线显示腕骨骺发育不良、肘部和膝关节增大以及左侧髋关节半脱位。超声心动图显示心脏瓣膜异常。与正常相比，他的桡骨远端和胫骨的总骨和小梁体积骨密度（BMD）以及小梁骨的微观结构有变差的趋势。CHST3 中 c.1343T>G 和 c.761C>G 的两个新错义变异分别从父亲和母亲遗传而来。在系统回顾中，身材矮小、关节伸展受限、关节疼痛和关节脱位是该疾病最常见的特征。错义突变和非错义突变组之间的身高 Z 评分和听力损伤比例没有显著差异。
进行性关节疼痛和运动受限是 CHST3 相关骨骼发育不良的主要特征。该疾病的 BMD 和骨微观结构需要进一步探索。该疾病没有明显的基因型-表型相关性。
