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Clinic and mtDNA A3243G mutation study in genealogy of maternally inherited diabetes and deafness (MIDD)
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF DIABETES
- Issue:
- 11
- DOI:
- 10.3969/j.issn.1006-6187.2009.11.004
- Key Word:
- 糖尿病;遗传性;母系;耳聋;遗传性;突变;线粒体
Abstract： 目的 探讨母系遗传性糖尿病伴耳聋(MIDD)患者的临床及mtDNA A3243G点突变特点.方法 收集5个MIDD家系成员的临床资料,以及部分外周血白细胞DNA标本,检测mtDNA A3243G点突变情况.结果 5个家系患者共24例,平均发病年龄约33岁;临床表型包括MIDD、线粒体糖尿病、感音神经性耳聋、线粒体脑肌病伴乳酸血症和卒中发作以及线粒体心肌病等.主要临床表现为消瘦、乏力、耳聋、卒中样发作、心悸等症状.有16例患者进行了基因检查,12例发现mtDNA A3243G点突变.结论 MIDD家系成员的临床表型异质性明显,耳蜗神经及胰腺最易受累,mtDNAA3243G突变率较高.
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