Deng Lin-bei, Quan Yi, Liu Jing, Lin Peng Si-yuan, Liang De-sheng, Wu Ling-qian
State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Dec;30(6):641-4. doi: 10.3760/cma.j.issn.1003-9406.2013.06.001.
To detect the underlying genetic defect in two Chinese families with hereditary multiple exostoses and provide genetic counseling.
Potential mutations in EXT1 and EXT2 genes in the probands were detected by direct sequencing of PCR-amplified exons. Suspected mutations were verified in all available family members and 200 unrelated healthy controls.
A heterozygous frameshift mutation c.346_356delinsTAT in exon 1 of EXT1 and a heterozygous deletion mutation c.2009-2012del(TCAA) in exon 10 of EXT1 were respectively detected in affected members from the two families. The same mutations were not detected in unaffected members and 200 unrelated healthy controls. No mutations in EXT2 were detected in the two families.
Two novel mutations of EXT1 have been detected in association with hereditary multiple exostoses in two Chinese families. Above results have provided a basis for genetic counseling for the two families and expanded the spectrum of EXT1 mutations.
检测两个遗传性多发性骨软骨瘤中国家系的潜在基因缺陷并提供遗传咨询。
通过对PCR扩增的外显子进行直接测序，检测先证者EXT1和EXT2基因中的潜在突变。在所有可用的家庭成员和200名无关健康对照中验证疑似突变。
在两个家系的患病成员中分别检测到EXT1基因第1外显子的杂合移码突变c.346_356delinsTAT和EXT1基因第10外显子的杂合缺失突变c.2009 - 2012del(TCAA)。在未患病成员和200名无关健康对照中未检测到相同突变。两个家系中均未检测到EXT2基因的突变。
在两个中国家系中检测到与遗传性多发性骨软骨瘤相关的两个EXT1基因新突变。上述结果为这两个家系的遗传咨询提供了依据，并扩展了EXT1基因突变谱。
