CLN8 disease caused by large genomic deletions

BACKGROUND: The presence of deletions can complicate genetic diagnosis of autosomal recessive disease. METHOD: The DNA of patients was analyzed in a diagnostic setting. RESULTS: We present three unrelated patients each carrying deletions that encompass the 37 kb CLN8 gene and discuss their phenotype...

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Detalles Bibliográficos
Autores principales: Beesley, Clare, Guerreiro, Rita J., Bras, Jose T., Williams, Ruth E., Taratuto, Ana Lia, Eltze, Christin, Mole, Sara E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Clinical Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241206/
https://www.ncbi.nlm.nih.gov/pubmed/28116333
http://dx.doi.org/10.1002/mgg3.263
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author Beesley, Clare
Guerreiro, Rita J.
Bras, Jose T.
Williams, Ruth E.
Taratuto, Ana Lia
Eltze, Christin
Mole, Sara E.
author_facet Beesley, Clare
Guerreiro, Rita J.
Bras, Jose T.
Williams, Ruth E.
Taratuto, Ana Lia
Eltze, Christin
Mole, Sara E.
author_sort Beesley, Clare
collection PubMed
description BACKGROUND: The presence of deletions can complicate genetic diagnosis of autosomal recessive disease. METHOD: The DNA of patients was analyzed in a diagnostic setting. RESULTS: We 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. CONCLUSION: Microarray 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.
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spelling pubmed-52412062017-01-23 CLN8 disease caused by large genomic deletions Beesley, Clare Guerreiro, Rita J. Bras, Jose T. Williams, Ruth E. Taratuto, Ana Lia Eltze, Christin Mole, Sara E. Mol Genet Genomic Med Clinical Report BACKGROUND: The presence of deletions can complicate genetic diagnosis of autosomal recessive disease. METHOD: The DNA of patients was analyzed in a diagnostic setting. RESULTS: We 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. CONCLUSION: Microarray 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. John Wiley and Sons Inc. 2016-11-23 /pmc/articles/PMC5241206/ /pubmed/28116333 http://dx.doi.org/10.1002/mgg3.263 Text en © 2016 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Clinical Report
Beesley, Clare
Guerreiro, Rita J.
Bras, Jose T.
Williams, Ruth E.
Taratuto, Ana Lia
Eltze, Christin
Mole, Sara E.
CLN8 disease caused by large genomic deletions
title CLN8 disease caused by large genomic deletions
title_full CLN8 disease caused by large genomic deletions
title_fullStr CLN8 disease caused by large genomic deletions
title_full_unstemmed CLN8 disease caused by large genomic deletions
title_short CLN8 disease caused by large genomic deletions
title_sort cln8 disease caused by large genomic deletions
topic Clinical Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241206/
https://www.ncbi.nlm.nih.gov/pubmed/28116333
http://dx.doi.org/10.1002/mgg3.263
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