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CLN8 disease caused by large genomic deletions.

ABSTRACT: The presence of deletions can complicate genetic diagnosis of autosomal recessive disease.The DNA of patients was analyzed in a diagnostic setting.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.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.

SUBMITTER: Beesley C 

PROVIDER: S-EPMC5241206 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature

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CLN8 disease caused by large genomic deletions.

Beesley Clare C   Guerreiro Rita J RJ   Bras Jose T JT   Williams Ruth E RE   Taratuto Ana Lia AL   Eltze Christin C   Mole Sara E SE  

Molecular genetics & genomic medicine 20161123 1

<h4>Background</h4>The presence of deletions can complicate genetic diagnosis of autosomal recessive disease.<h4>Method</h4>The DNA of patients was analyzed in a diagnostic setting.<h4>Results</h4>We present three unrelated patients each carrying deletions that encompass the 37 kb <i>CLN8</i> gene and discuss their phenotype. Two of the cases were hemizygous for a mutant allele - their deletions unmasked a mutation in <i>CLN8</i> on the other chromosome.<h4>Conclusion</h4>Microarray analysis is  ...[more]

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