Open AccessCLN 8 disease caused by large genomic deletions
Author(s) -
Beesley Clare,
Guerreiro Rita J.,
Bras Jose T.,
Williams Ruth E.,
Taratuto Ana Lia,
Eltze Christin,
Mole Sara E.
Publication year - 2017
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.263
Subject(s) - genetics , mutation , allele , phenotype , gene , consanguinity , biology , genomic dna , disease , mutant , chromosome , medicine , pathology
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 CLN 8 gene and discuss their phenotype. Two of the cases were hemizygous for a mutant allele – their deletions unmasked a mutation in CLN 8 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.