CLN 8 disease caused by large genomic deletions | Zendy

Beesley Clare | Zendy; Guerreiro Rita J. | Zendy; Bras Jose T. | Zendy; Williams Ruth E. | Zendy; Taratuto Ana Lia | Zendy; Eltze Christin | Zendy; Mole Sara E. | Zendy

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CLN 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.

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