A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation

Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations...

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Autores principales: Incecık, Faruk, Herguner, Ozlem M., Rizzo, Wiliam B., Altunbasak, Sakir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3788300/
https://www.ncbi.nlm.nih.gov/pubmed/24101836
http://dx.doi.org/10.4103/0972-2327.116927
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author Incecık, Faruk
Herguner, Ozlem M.
Rizzo, Wiliam B.
Altunbasak, Sakir
author_facet Incecık, Faruk
Herguner, Ozlem M.
Rizzo, Wiliam B.
Altunbasak, Sakir
author_sort Incecık, Faruk
collection PubMed
description Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. We diagnosed two brothers age of 12 and 20 years with characteristic features of this rare syndrome. Magnetic resonance imaging showed demyelinating disease in both of them. We described a novel homozygous, c. 835 T > A (p.Y279N) mutation in exon 6 in two patients.
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spelling pubmed-37883002013-10-07 A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation Incecık, Faruk Herguner, Ozlem M. Rizzo, Wiliam B. Altunbasak, Sakir Ann Indian Acad Neurol Case Report Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. We diagnosed two brothers age of 12 and 20 years with characteristic features of this rare syndrome. Magnetic resonance imaging showed demyelinating disease in both of them. We described a novel homozygous, c. 835 T > A (p.Y279N) mutation in exon 6 in two patients. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3788300/ /pubmed/24101836 http://dx.doi.org/10.4103/0972-2327.116927 Text en Copyright: © Annals of Indian Academy of Neurology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Incecık, Faruk
Herguner, Ozlem M.
Rizzo, Wiliam B.
Altunbasak, Sakir
A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation
title A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation
title_full A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation
title_fullStr A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation
title_full_unstemmed A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation
title_short A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation
title_sort turkish family with sjögren-larsson syndrome caused by a novel aldh3a2 mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3788300/
https://www.ncbi.nlm.nih.gov/pubmed/24101836
http://dx.doi.org/10.4103/0972-2327.116927
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