ectopia lentis/سيستئين

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A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.

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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

Ectopia lentis as the presenting and primary feature in Marfan syndrome.

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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

A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family.

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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

A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.

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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

Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis.

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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

An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.

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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,

Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.

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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

A novel FBN1 mutation in a Chinese family with isolated ectopia lentis.

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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

Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis.

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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.

Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis.

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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

Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families.

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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

Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.

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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,

The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus.

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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

Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.

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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

Phenotype presentation for a novel mutation affecting a conserved cysteine residue in exon 63 of fibrillin-1 (Cys2633Arg).

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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

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