A Novel Mutation of the CLN8 Gene: Is There a Mediterranean Phenotype?

Nathanel Zelnik, Muhammad Mahajna, Theodore C. Iancu, Reuven Sharony, Marsha Zeigler

Research output: Contribution to journalArticlepeer-review

Abstract

We report the first known case in Israel of a patient with an early childhood onset of ceroid-lipofuscinosis who is homozygous to a mutation of the CLN8 gene. This patient further expands the clinical varieties of CLN8, initially reported in Finland and Turkey and recently in Italy. The ultrastructural pathology of a skin biopsy specimen revealed abundant typical fingerprint profiles, but rare granular osmiophilic bodies and curvilinear structures. Sequencing of exon 3 of the CLN8 gene revealed a novel C>G missense mutation at a conserved amino acid glutamine 256 to glutamic acid. Our findings further raise the possibility of the existence of a Mediterranean CLN8 variant.

Original languageEnglish
Pages (from-to)411-413
Number of pages3
JournalPediatric Neurology
Volume36
Issue number6
DOIs
StatePublished - Jun 2007
Externally publishedYes

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