CLN8 disease caused by large genomic deletions
Clare Beesley1, Rita J Guerreiro2, Jose T Bras2
1Regional Genetics Laboratory Great Ormond Street Hospital London WC1N 3BH UK.
Molecular Genetics & Genomic Medicine
|January 25, 2017
Summary
Deletions can complicate genetic diagnosis of autosomal recessive diseases. Microarray analysis is recommended for patients suspected of neuronal ceroid lipofuscinosis (NCL) with unmasked mutations.
Area of Science:
- Genetics
- Molecular Biology
- Clinical Diagnostics
Background:
- Deletions pose challenges in diagnosing autosomal recessive diseases.
- Genetic testing requires careful consideration of deletion variants.
Purpose of the Study:
- To investigate the role of deletions in the genetic diagnosis of autosomal recessive diseases.
- To report on patients with deletions encompassing the CLN8 gene.
Main Methods:
- DNA analysis in a diagnostic setting.
- Case study of three unrelated patients.
Main Results:
- Three patients with deletions of the CLN8 gene were identified.
- Two patients were hemizygous, with deletions unmasking mutations on the other allele.
- Phenotypic discussion of patients with CLN8 deletions.
Conclusions:
- Microarray analysis is crucial for diagnosing Neuronal Ceroid Lipofuscinosis (NCL).
- Recommended for patients with apparent homozygosity for mutations without parental origin or known consanguinity.
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