先天性运动型眼球震颤(Congenital motor nystagmus,CMN)是一种常见的眼科遗传病,在新生儿中发生率较高,具有较高的遗传异质性,其遗传方式包括常染色体显性、常染色体隐性和X连锁等。近年来随着分子生物学技术的发展和在遗传病研究中的...先天性运动型眼球震颤(Congenital motor nystagmus,CMN)是一种常见的眼科遗传病,在新生儿中发生率较高,具有较高的遗传异质性,其遗传方式包括常染色体显性、常染色体隐性和X连锁等。近年来随着分子生物学技术的发展和在遗传病研究中的应用,CMN的遗传学研究取得了较多进展。目前X连锁遗传的CMN致病基因FRMD7已经被定位在Xq26-q27,但对FRMD7基因的功能和致病机制仍需进一步研究。本文对CMN的分子遗传学研究进展进行综述。展开更多
Purpose Congenital nystagmus (CN) is an eye movement disorder that usually st arts within the first months of life. Autosomal dominant, autosomal recessive, a nd X chromo somal pedigree patterns are observed. Causativ...Purpose Congenital nystagmus (CN) is an eye movement disorder that usually st arts within the first months of life. Autosomal dominant, autosomal recessive, a nd X chromo somal pedigree patterns are observed. Causative genes are yet unknown. Several loci were implicated to contain disease relevant genes for autosomal dominant CN (AD CN). AD CN cosegregated with a balanced translocation of 7;15 in a family . In a large black pedigree linkage was demonstrated to 6p12. Design In this stu dy, we describe a large German family with AD congenital nystagmus. Linkage of A D in this family was tested with previously implicated loci. Methods Affected fa mily members and unaffected members underwent genetic analysis. Key family membe rs underwent ophthalmologic testing and oculography. Results No linkage of AD CN to the implicated loci on 6p12, and 7p11, and 15q11 was found in this study. Co nclusion In the presented pedigree genes on 15q11, and on the assumption of full penetrance, 6p12 and 7p11 are not involved in the development of AD congenital nystagmus.展开更多
文摘先天性运动型眼球震颤(Congenital motor nystagmus,CMN)是一种常见的眼科遗传病,在新生儿中发生率较高,具有较高的遗传异质性,其遗传方式包括常染色体显性、常染色体隐性和X连锁等。近年来随着分子生物学技术的发展和在遗传病研究中的应用,CMN的遗传学研究取得了较多进展。目前X连锁遗传的CMN致病基因FRMD7已经被定位在Xq26-q27,但对FRMD7基因的功能和致病机制仍需进一步研究。本文对CMN的分子遗传学研究进展进行综述。
文摘Purpose Congenital nystagmus (CN) is an eye movement disorder that usually st arts within the first months of life. Autosomal dominant, autosomal recessive, a nd X chromo somal pedigree patterns are observed. Causative genes are yet unknown. Several loci were implicated to contain disease relevant genes for autosomal dominant CN (AD CN). AD CN cosegregated with a balanced translocation of 7;15 in a family . In a large black pedigree linkage was demonstrated to 6p12. Design In this stu dy, we describe a large German family with AD congenital nystagmus. Linkage of A D in this family was tested with previously implicated loci. Methods Affected fa mily members and unaffected members underwent genetic analysis. Key family membe rs underwent ophthalmologic testing and oculography. Results No linkage of AD CN to the implicated loci on 6p12, and 7p11, and 15q11 was found in this study. Co nclusion In the presented pedigree genes on 15q11, and on the assumption of full penetrance, 6p12 and 7p11 are not involved in the development of AD congenital nystagmus.
