Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.

Corina-Marcela RusThomas WeissensteinerCatarina PereiraIuliana SusneaBright D DanquahGalina Morales TorresMaria Eugenia RochaClaudia CozmaDeepa SaravanakumarSumanth MannepalliKrishna K KandaswamySebastiano Di BucchianicoRalf ZimmermannArndt RolfsPeter BauerChristian Beetz

Published in: Orphanet journal of rare diseases (2022)

Our study significantly expands the number of published clinical cases and the mutational spectrum of disease-associated CLN6 variants, especially for the Middle Eastern and North African regions. We confirm previous observations regarding the most prevalent symptoms and recommend including CLN6 in the genetic diagnosis of patients presenting with early-onset abnormalities of the nervous system, musculoskeletal system, and eye.

Keyphrases

early onset
end stage renal disease
late onset
newly diagnosed
ejection fraction
chronic kidney disease
prognostic factors
genome wide
systematic review
patient reported outcomes
gene expression
patient reported