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- Title
CLN8 disease caused by large genomic deletions.
- Authors
Beesley, Clare; Guerreiro, Rita J.; Bras, Jose T.; Williams, Ruth E.; Taratuto, Ana Lia; Eltze, Christin; Mole, Sara E.
- 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.
- Subjects
NEURONAL ceroid-lipofuscinosis; MEDICAL genetics; GENE expression; AMINO acid analysis; DNA analysis; GENETICS
- Publication
Molecular Genetics & Genomic Medicine, 2017, Vol 5, Issue 1, p85
- ISSN
2324-9269
- Publication type
Article
- DOI
10.1002/mgg3.263