Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview

Shamima Rahman; David Thorburn

Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview

Review

In: GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.

2015 Oct 1 [updated 2020 Jul 16].

Authors

Shamima Rahman¹, David Thorburn²

Book Editors

Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya

Affiliations

¹ Professor of Paediatric Metabolic Medicine, Genetics and Genomic Medicine Programme, UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom
² NHMRC Principal Research Fellow, Murdoch Children's Research Institute and Genetic Health Services Victoria, Royal Children's Hospital;, Department of Paediatrics, University of Melbourne, Melbourne, Australia

PMID: 26425749
Bookshelf ID: NBK320989

Excerpt

The purpose of this overview is to increase the awareness of clinicians regarding genetic causes of nuclear gene-encoded Leigh syndrome spectrum (LSS), management, especially treatable disorders, and relevant genetic counseling issues. The following are the goals of this overview.

Goal 1: Describe the clinical characteristics of nuclear gene-encoded LSS.

Goal 2: Review the genetic causes of nuclear gene-encoded LSS.

Goal 3: Provide an evaluation strategy to identify the genetic cause of nuclear gene-encoded LSS in a proband (when possible).

Goal 4: Review management of nuclear gene-encoded LSS, especially treatable disorders.

Goal 5: Inform genetic counseling of family members of an individual with nuclear gene-encoded LSS.

Sections

Publication types

Review