Ectopia Lentis in a Consanguineous Pakistani Family and a Novel Locus on Chromosome 8q

Ectopia lentis in a consanguineous pakistani family and a novel locus on chromosome 8q.

OBJECTIVE To investigate the genetic basis and molecular characteristics of the isolated form of ectopia lentis. METHODS We ascertained a consanguineous Pakistani family with multiple individuals with ectopia lentis. All affected as well as unaffected members with isolated ectopia lentis underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extrac...

A novel locus for autosomal dominant nuclear cataract mapped to chromosome 2p12 in a Pakistani family.

PURPOSE To map the disease locus in a four-generation, consanguineous Pakistani family affected by autosomal dominant congenital nuclear cataract (adNCat). All affected individuals had early onset of bilateral nuclear cataract. METHODS Genomic DNA from family members was typed for alleles at more than 300 known polymorphic genetic markers by polymerase chain reaction. The lod scores were calc...

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

PURPOSE 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 individuals in the family. Polymerase chain reaction (PCR) amplification and direct sequencing of...

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

PURPOSE 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 children's were collected. Genomic DNA was extracted from leukocytes of peripheral blood. Genotyping w...

Some Observations on Ectopia Lentis