Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome

Sjögren–Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in ALDH3A2 gene are known to be responsible for this syndrome. Here, we report an Iranian family with congenital SLS bearing a novel two‐base‐pair delet...

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Autores principales: Taghdiri, Maryam, Kashef, Atie, Fardaei, Majid, Miryounesi, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771940/
https://www.ncbi.nlm.nih.gov/pubmed/29375833
http://dx.doi.org/10.1002/ccr3.1235
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author Taghdiri, Maryam
Kashef, Atie
Fardaei, Majid
Miryounesi, Mohammad
author_facet Taghdiri, Maryam
Kashef, Atie
Fardaei, Majid
Miryounesi, Mohammad
author_sort Taghdiri, Maryam
collection PubMed
description Sjögren–Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in ALDH3A2 gene are known to be responsible for this syndrome. Here, we report an Iranian family with congenital SLS bearing a novel two‐base‐pair deletion within ALDH3A2 genomic sequence. Our finding expands the mutation spectrum of ALDH3A2 that is applicable for further molecular studies and management of SLS.
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spelling pubmed-57719402018-01-26 Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome Taghdiri, Maryam Kashef, Atie Fardaei, Majid Miryounesi, Mohammad Clin Case Rep Case Reports Sjögren–Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in ALDH3A2 gene are known to be responsible for this syndrome. Here, we report an Iranian family with congenital SLS bearing a novel two‐base‐pair deletion within ALDH3A2 genomic sequence. Our finding expands the mutation spectrum of ALDH3A2 that is applicable for further molecular studies and management of SLS. John Wiley and Sons Inc. 2017-11-22 /pmc/articles/PMC5771940/ /pubmed/29375833 http://dx.doi.org/10.1002/ccr3.1235 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Taghdiri, Maryam
Kashef, Atie
Fardaei, Majid
Miryounesi, Mohammad
Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome
title Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome
title_full Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome
title_fullStr Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome
title_full_unstemmed Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome
title_short Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome
title_sort identification of a novel deletion within aldh3a2 gene in an iranian family with sjögren–larsson syndrome
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771940/
https://www.ncbi.nlm.nih.gov/pubmed/29375833
http://dx.doi.org/10.1002/ccr3.1235
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AT fardaeimajid identificationofanoveldeletionwithinaldh3a2geneinaniranianfamilywithsjogrenlarssonsyndrome
AT miryounesimohammad identificationofanoveldeletionwithinaldh3a2geneinaniranianfamilywithsjogrenlarssonsyndrome

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