Beesley, C;
Guerreiro, RJ;
Bras, JT;
Williams, RE;
Taratuto, AL;
Eltze, C;
Mole, SE;
(2017)
CLN8 disease caused by large genomic deletions.
Molecular Genetics & Genomic Medicine
, 5
(1)
pp. 85-91.
10.1002/mgg3.263.
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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.
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