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Linkage And Mutational Analysis Of Gene Lebercilin (Lca5) In Families With Leber Congenital Amaurosis

By: Adeel Ahmad | Prof. Dr. Masroor Ellahi Babar.
Contributor(s): Dr. Abu Saeed | Mrs. Saeeda Kalsoom.
Material type: materialTypeLabelBookPublisher: 2012Subject(s): Institute of Biochemistry & BiotechnologyDDC classification: 1518,T Dissertation note: Leber congenital amaurosis (LCA, MIM #204000) accounts for at least 5% of all retinal dystrophies and approximately 20% of children attending schools for the blind. LCA is the most severe retinal dystrophy causing blindness or severe visual impairment before the age of 1 year. Inheritance is autosomal recessive in most cases. Clinically, LCA is characterized by the presence of four key features, namely severe and early visual loss (usually around the age of 6 weeks), sensory nystagmus, amaurotic pupils, and minimal or absent responses on the electroretinogram (ERG). A total of five families (LA01-LA05) were enrolled, blood samples were collected and processed for DNA extraction. During linkage and genome scan, single family showed linkage to LCA5 locus. The diagnosis was established in all affected individuals by medical history, funduscopy, and standard ERG. We performed genome-wide linkage analysis for mapping the disease locus in this family. Congenitally severely reduced visual acuity and nystagmus were reported for all patients. LCA in the family cosegregated with homozygosity for a single nucleotide polymorphism (SNP) haplotype on chromosome 6p14.1. The respective candidate region contained Leber congenital amaurosis 5 (LCA5), a gene previously reported to underlie LCA; subsequently identified a novel truncating mutation in exon 4 of LCA5, c.642delC, in homozygous state in all affected persons of the family LA01. Here, a novel LCA5 mutation causing LCA in a Pakistani family is reported.
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Leber congenital amaurosis (LCA, MIM #204000) accounts for at least 5% of all retinal dystrophies and approximately 20% of children attending schools for the blind. LCA is the most severe retinal dystrophy causing blindness or severe visual impairment before the age of 1 year. Inheritance is autosomal recessive in most cases. Clinically, LCA is characterized by the presence of four key features, namely severe and early visual loss (usually around the age of 6 weeks), sensory nystagmus, amaurotic pupils, and minimal or absent responses on the electroretinogram (ERG).
A total of five families (LA01-LA05) were enrolled, blood samples were collected and processed for DNA extraction. During linkage and genome scan, single family showed linkage to LCA5 locus. The diagnosis was established in all affected individuals by medical history, funduscopy, and standard ERG. We performed genome-wide linkage analysis for mapping the disease locus in this family.
Congenitally severely reduced visual acuity and nystagmus were reported for all patients. LCA in the family cosegregated with homozygosity for a single nucleotide polymorphism (SNP) haplotype on chromosome 6p14.1. The respective candidate region contained Leber congenital amaurosis 5 (LCA5), a gene previously reported to underlie LCA; subsequently identified a novel truncating mutation in exon 4 of LCA5, c.642delC, in homozygous state in all affected persons of the family LA01. Here, a novel LCA5 mutation causing LCA in a Pakistani family is reported.

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