Səhifə 1 dan 37 nəticələr
OBJECTIVE
To identify the genetic defect in an autosomal dominant ectopia lentis (EL) family having 27 affected members in four generations.
METHODS
Detailed family history and clinical data were recorded for 48 family members including 24 persons with isolated ectopia lentis. Candidate gene regions
Marfan syndrome (MFS) is a multisystem connective tissue disorder with primary involvement of the ocular, cardiovascular, and skeletal systems. We report on eight patients, all presenting initially with bilateral ectopia lentis (EL) during early childhood. These individuals did not have systemic
OBJECTIVE
To characterize the disease-causing mutations in a Chinese family with ectopia lentis syndrome (ELS).
METHODS
Patients and their family members were given complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA samples were extracted from the peripheral blood of the
Marfan syndrome is a multisystem disease with cardiovascular, ophthalmologic, and skeletal features. Diagnosis is made clinically with emphasis on presence of aortic root dilation and ectopia lentis (EL). Most individuals meeting these criteria have a pathogenic variant in FBN1, usually unique or
OBJECTIVE
To identify the genetic defect in a Chinese family with autosomal dominant inherited ectopia lentis.
METHODS
twenty-one family members, including seven patients underwent general physical and fully ophthalmic examinations. Genomic DNA was extracted from leukocytes of venous blood of these
We present here a family with a clinical phenotype resembling Marfan syndrome (MFS), and displaying joint contracture and episodes of knee joint effusions, but lacking the cardiovascular features of the syndrome. The phenotype of this family represents a unique mixture of connective tissue symptoms,
BACKGROUND
Marfan syndrome (MFS), inherited as an autosomal dominant trait, typically affects the cardiovascular, skeletal, and ocular systems. Ectopia lentis (EL) is a clinical manifestation of MFS, with stretching or disruption of the lenticular zonular filaments, leading to displacement of the
OBJECTIVE
To identify the genetic defect in an autosomal dominant isolated ectopia lentis (EL) family.
METHODS
Detailed family history and clinical data were collected from the family including sixteen patients with isolated EL. Blood samples of nine patients, one normal person and two unknown
OBJECTIVE
To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with ectopia lentis (EL) and to predict the structural and functional consequences of the mutation.
METHODS
Patients and family members were given complete physical, ophthalmic, and cardiovascular examinations.
OBJECTIVE
To examine the fibrillin-1 (FBN1) gene for mutations in members of a Chinese family with isolated ectopia lentis.
METHODS
Clinically relevant laboratory investigation.
METHODS
Family members underwent clinical examinations. Genomic DNA was extracted from leukocytes of peripheral blood from
OBJECTIVE
To identify the molecular defects in the fibrillin-1 gene (FBN1) in two Chinese families with ectopia lentis (EL) and marfanoid habitus.
METHODS
Five patients and eight non-carriers in the two families underwent complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA
OBJECTIVE
To identify mutations in the fibrillin-1 gene (FBN1) and provide further information about genotype-phenotype correlations in Chinese patients with predominant ectopia lentis (EL) and marfanoid habitus.
METHODS
Patients from seven Chinese families underwent complete physical, ophthalmic,
Mutations in the fibrillin-1 (FBN1) gene have been identified in patients with Marfan syndrome (MFS) and Marfan-like connective tissue disorders. In this study, two Chinese families were recruited. The patients in family 1 were well characterized with MFS, while those in family 2 displayed
Fibrillin-1 (FBN1) contains 47 epidermal growth factor (EGF)-like domains characterized by six conserved cysteine residues. Cysteine substitutions that disrupt one of the three disulfide bonds are frequent causes of Marfan syndrome (MFS). We identified 19 new substitutions involving cysteine
Marfan syndrome is an autosomal dominant disease caused by mutations in the gene encoding for fibrillin-1 (FBN1). More than 1,000 FBN1 mutations have been identified, which may lead to multiple organ involvement, particularly of the ocular, skeletal, and cardiovascular systems. Mutations in exons