title: CLN8 disease caused by large genomic deletions.
abstract: BACKGROUND
  The presence of deletions can complicate genetic diagnosis of autosomal recessive disease.
  
  
  METHODS
  The DNA of patients was analyzed in a diagnostic setting.
  
  
  RESULTS
  We present three unrelated patients each carrying deletions that encompass the 37 kbCLN8gene and discuss their phenotype. Two of the cases were hemizygous for a mutant allele - their deletions unmasked a mutation inCLN8on the other chromosome.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Regional Genetics Laboratory Great Ormond Street Hospital London WC1N 3BH UK.
authors.forename: Clare
authors.initials: C
authors.lastname: Beesley
authors.affiliation: Department of Molecular NeuroscienceInstitute of NeurologyUniversity College LondonQueen SquareLondonWC1N 3BGUK; Department of Medical Sciences and Institute of Biomedicine - iBiMEDUniversity of AveiroAveiro3810-193Portugal.
authors.forename: Rita J
authors.initials: RJ
authors.lastname: Guerreiro
authors.affiliation: Department of Molecular NeuroscienceInstitute of NeurologyUniversity College LondonQueen SquareLondonWC1N 3BGUK; Department of Medical Sciences and Institute of Biomedicine - iBiMEDUniversity of AveiroAveiro3810-193Portugal.
authors.forename: Jose T
authors.initials: JT
authors.lastname: Bras
authors.affiliation: Children's Neurosciences Evelina London Children's Hospital Westminster Bridge Road London SE1 7EH UK.
authors.forename: Ruth E
authors.initials: RE
authors.lastname: Williams
authors.affiliation: Institute for Neurological Research Montañeses 2325 Buenos Aires Argentina.
authors.forename: Ana Lia
authors.initials: AL
authors.lastname: Taratuto
authors.affiliation: Neurology Department Great Ormond Street Hospital Great Ormond Street London WC1N 3JH UK.
authors.forename: Christin
authors.initials: C
authors.lastname: Eltze
authors.affiliation: 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.
authors.forename: Sara E
authors.initials: SE
authors.lastname: Mole
keywords: Batten; CLN8; NCL; neuronal ceroid lipofuscinosis