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CLN8 disease caused by large genomic deletions.
- Source :
-
Molecular Genetics & Genomic Medicine . Jan2017, Vol. 5 Issue 1, p85-91. 7p. - Publication Year :
- 2017
-
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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 23249269
- Volume :
- 5
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Molecular Genetics & Genomic Medicine
- Publication Type :
- Academic Journal
- Accession number :
- 120771984
- Full Text :
- https://doi.org/10.1002/mgg3.263