CLN 8 disease caused by large genomic deletions

BackgroundThe presence of deletions can complicate genetic diagnosis of autosomal recessive disease.MethodThe DNA of patients was analyzed in a diagnostic setting.ResultsWe present three unrelated patients each carrying deletions that encompass the 37 kb CLN8 gene and discuss their phenotype. Two of...

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Bibliographic Details
Published in:Molecular genetics & genomic medicine 2017-01, Vol.5 (1), p.85-91
Main Authors: Beesley, Clare, Guerreiro, Rita J., Bras, Jose T., Williams, Ruth E., Taratuto, Ana Lia, Eltze, Christin, Mole, Sara E.
Format: Article
Language:English
Subjects:
Age
Atrophy
Biopsy
Chromosomes
Consanguinity
Convulsions & seizures
Deoxyribonucleic acid
Diagnostic systems
DNA
DNA microarrays
Genes
Genetic screening
Genomes
Genotype & phenotype
Laboratories
Lymphocytes
Medical imaging
Mutation
Patients
Phenotypes
Skin
Software
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Description
Summary:BackgroundThe presence of deletions can complicate genetic diagnosis of autosomal recessive disease.MethodThe DNA of patients was analyzed in a diagnostic setting.ResultsWe present three unrelated patients each carrying deletions that encompass the 37 kb CLN8 gene and discuss their phenotype. Two of the cases were hemizygous for a mutant allele – their deletions unmasked a mutation in CLN8 on the other chromosome.ConclusionMicroarray analysis is recommended in any patient suspected of NCL who is apparently homozygous for a mutation that is not present in one of the parents or when the family has no known consanguinity.
ISSN:2324-9269
2324-9269
DOI:10.1002/mgg3.263