CLN8 disease caused by large genomic deletions

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


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.