Heinritz W, Pretzsch M, Koall S, Matzen P F, Froster U G
Institut für Humangenetik, Medizinische Fakultät, Universität, Leipzig.
Orthopade. 2005 May;34(5):470-6. doi: 10.1007/s00132-005-0774-0.
Hereditary multiple exostosis (HME), a disorder inherited in an autosomal dominant manner, is characterized by multiple projections of bone, mainly at the extremities. The risk of malignant transformation of the exostoses is estimated to be up to 2%. The most common underlying cause of the disease involves mutations in either the EXT1 or the EXT2 gene. We report on the clinical and molecular findings in a family affected with HME.A mother and her three children from different partnerships, all clinically diagnosed with HME, were referred for genetic counseling. Subsequently, molecular analysis of the EXT1 gene was performed according to standard procedures. We identified a mutation in the EXT1 gene in all four affected family members (delA in codon 133). This mutation has not been previously described and is suggested to cause the disease in this family. Identification of disease causing mutations in patients with HME and their relatives can help to improve the clinical management of tumor prevention, early tumor detection, and orthopedic therapy.
遗传性多发性骨软骨瘤（HME）是一种以常染色体显性方式遗传的疾病，其特征是骨的多个突起，主要位于四肢。骨软骨瘤恶变的风险估计高达2%。该疾病最常见的潜在病因涉及EXT1或EXT2基因的突变。我们报告了一个受HME影响的家庭的临床和分子学发现。一位母亲及其来自不同伴侣关系的三个孩子，均临床诊断为HME，前来接受遗传咨询。随后，按照标准程序对EXT1基因进行了分子分析。我们在所有四名受影响的家庭成员中均鉴定出EXT1基因的一个突变（密码子133处的delA）。此突变先前未曾被描述过，提示其在该家庭中导致了疾病。在HME患者及其亲属中鉴定致病突变有助于改善肿瘤预防、早期肿瘤检测和骨科治疗的临床管理。
