家族性高胆固醇血症(fam ilial hypercholesterolem ia,FH;M IM 143890)是一种常染色体显性遗传性疾病,是脂质代谢疾病中最严重的一种,导致早期发生较为严重的冠心病(coronary artery d isease,CAD)。FH存在一些亚型,其中常染色体隐性...家族性高胆固醇血症(fam ilial hypercholesterolem ia,FH;M IM 143890)是一种常染色体显性遗传性疾病,是脂质代谢疾病中最严重的一种,导致早期发生较为严重的冠心病(coronary artery d isease,CAD)。FH存在一些亚型,其中常染色体隐性遗传性高胆固醇血症(autosom al recessive hypercholesterolem ia,ARH;M IM 603813)纯合患者,可表现为胆固醇水平异常升高、皮肤肌腱黄色瘤和早发的冠心病,临床表现与FH极为相似。展开更多
We report a kindred with autosomal recessive interleukin- 1 receptor- associated kinase 4 (IRAK- 4) deficiency in 3 fourthdegree relatives. A diagnosis of IRAK- 4 deficiency should be considered in families with invas...We report a kindred with autosomal recessive interleukin- 1 receptor- associated kinase 4 (IRAK- 4) deficiency in 3 fourthdegree relatives. A diagnosis of IRAK- 4 deficiency should be considered in families with invasive bacterial disease, even if the individuals affected are only distantly related, which falsely suggests multigenic or dominant inheritance with low penetrance.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
文摘家族性高胆固醇血症(fam ilial hypercholesterolem ia,FH;M IM 143890)是一种常染色体显性遗传性疾病,是脂质代谢疾病中最严重的一种,导致早期发生较为严重的冠心病(coronary artery d isease,CAD)。FH存在一些亚型,其中常染色体隐性遗传性高胆固醇血症(autosom al recessive hypercholesterolem ia,ARH;M IM 603813)纯合患者,可表现为胆固醇水平异常升高、皮肤肌腱黄色瘤和早发的冠心病,临床表现与FH极为相似。
文摘We report a kindred with autosomal recessive interleukin- 1 receptor- associated kinase 4 (IRAK- 4) deficiency in 3 fourthdegree relatives. A diagnosis of IRAK- 4 deficiency should be considered in families with invasive bacterial disease, even if the individuals affected are only distantly related, which falsely suggests multigenic or dominant inheritance with low penetrance.
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.
