Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome. Issue 1 (22nd November 2017)

• Record Type: Journal Article
• Authors: Taghdiri, Maryam; Kashef, Atie; Fardaei, Majid; Miryounesi, Mohammad
• Is Part Of: Clinical case reports. Volume 6:Issue 1(2018)
• Page Start: 32
• Page End: 36
• Publication Date: 2017-11-22
• Subjects: ALDH3A2 gene -- congenital neuroichthyosis -- deletion -- Sjögren–Larsson syndrome; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1235
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. Abstract : 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.