| Summary: | 碩士 === 高雄醫學大學 === 醫學研究所碩士班 === 92 === Monogenic diseases mean a group of genetic diseases which are caused by single corresponding gene mutation. This kind of diseases are often called mendelian trait because they occur on average in fixed proportion among the offspring of specific type of mating. Comparing with polygenic disease such as diabetes and hypertension, single-gene disorders are relatively less frequent but with clear mode of inheritance and similar onset of disease.
Congenital muscular dystrophies (CMD) are a group of heterogeneous, neuromuscular disorders. The merosin-deficient CMD is an monogenic, autosomal recessive disorder and caused by the mutations in the LAMA2 gene. Autosomal dominant Emery-Dreifuss muscular dystrophy results from mutations of the LMNA gene.
There were cases of merosin-deficient CMD and autosomal dominant Emery-Dreifuss muscular dystrophy diagnosed in Taiwan in recent years. This is the first report of the mutation analysis of LAMA2 and LMNA genes in Taiwan.
In this study, we report one six-year-old girl with merosin-deficient CMD. She has one frameshift mutation（2098delAG）in one copy of the LAMA2 gene, this mutation predicts a truncated protein. A nonsense mutation（1352C＞T）in the other copy of the gene also predicts a truncated protein, and this mutation is a novel form in LAMA2 gene. Then we report one family with autosomal dominant Emery-Dreifuss muscular dystrophy. The mother and her two dauthers have missense mutation （T6293G）in one copy of the LMNA gene, and the mutation is also a novel form in this gene.
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