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Mol Genet Genomic Med. 2016 Nov 23;5(1):85-91. doi: 10.1002/mgg3.263. eCollection 2017 Jan.

CLN8 disease caused by large genomic deletions.

Author information

1
Regional Genetics Laboratory Great Ormond Street Hospital London WC1N 3BH UK.
2
Department of Molecular NeuroscienceInstitute of NeurologyUniversity College LondonQueen SquareLondonWC1N 3BGUK; Department of Medical Sciences and Institute of Biomedicine - iBiMEDUniversity of AveiroAveiro3810-193Portugal.
3
Children's Neurosciences Evelina London Children's Hospital Westminster Bridge Road London SE1 7EH UK.
4
Institute for Neurological Research Montañeses 2325 Buenos Aires Argentina.
5
Neurology Department Great Ormond Street Hospital Great Ormond Street London WC1N 3JH UK.
6
MRC Laboratory for Molecular Cell Biology Genetics and Genomics Medicine Unit Department of Genetics, Evolution and Environment Institute of Child Health University College London Gower Street London WC1E 6BT UK.

Abstract

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.

KEYWORDS:

Batten; CLN8; NCL; neuronal ceroid lipofuscinosis

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