Ren Zhuo, Yuan Jia-Yu, Zhang Jing, Tan Ya, Chen Wen-Qi, Zhang Zhen-Tao, Li Ya-Zhou
Department of Obstetrics and Gynecology, Peking University International Hospital Beijing 102206, China.
Department of Pediatric Orthopaedics, The Third Hospital of Hebei Medical University Shijiazhuang 050051, Hebei, China.
Am J Transl Res. 2022 Sep 15;14(9):6303-6312. eCollection 2022.
HMO (Hereditary Multiple Osteochondroma), an uncommon autosomal dominant disorder, is characterized by the development of multiple osteochondromas, which are nonmalignant cartilage-capped bone tumors growing outwards from long bone metaphyses.
The present work retrospectively analyzed seven children with HMO who were enrolled for routine clinical diagnosis and treatment, including X-ray examination. Subsequent genetic detection was carried out using whole exome sequencing (WES). In addition, this work applied Sanger sequencing to be the validation approach. Moreover, this work also examined amino acid (AA) evolutionary conservatism under the influence of certain missense variants.
The clinical indications of all seven patients and their family members were thoroughly indexed. WES identified diagnostic variants in the or gene in these patients. In these variants, four were reported for the first time, namely : c.1285-2A>T, : c.1139delT, : c.203G>A, and : c.1645_1673del. Familial validation revealed that three of the variants were hereditary, while the other four were , which was consistent with the phenotype in each case.
Our results expanded HMO variation spectrum, and laid certain foundations for the precise counseling of those affected families.
遗传性多发性骨软骨瘤（HMO）是一种罕见的常染色体显性疾病，其特征是多发性骨软骨瘤的形成，这些是从长骨骨干向外生长的非恶性软骨帽状骨肿瘤。
本研究回顾性分析了7例因常规临床诊断和治疗入院的HMO患儿，包括X线检查。随后采用全外显子组测序（WES）进行基因检测。此外，本研究采用桑格测序作为验证方法。此外，本研究还检测了某些错义变异影响下的氨基酸（AA）进化保守性。
对所有7例患者及其家庭成员的临床指征进行了全面记录。WES在这些患者中鉴定出 或 基因的诊断变异。在这些变异中，有4个是首次报道，即：c.1285-2A>T、：c.1139delT、：c.203G>A和：c.1645_1673del。家族验证显示，其中3个变异是遗传性的，而其他4个是 ，这与每个病例的表型一致。
我们的结果扩展了HMO变异谱，为受影响家庭的精准咨询奠定了一定基础。
