Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjogren-Larsson Syndrome.
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SUBMITTER: Taghdiri M
PROVIDER: S-EPMC5771940 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Publications
Identification of a novel deletion within <i>ALDH3A2 gene in an Iranian Family</i> with Sjögren-Larsson Syndrome.
Taghdiri Maryam M Kashef Atie A Fardaei Majid M Miryounesi Mohammad M
Clinical case reports 20171122 1
Sjögren-Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in <i>ALDH3A2 gene</i> 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 <i>ALDH3A2</i> genomic sequence. Our finding expands the mutation spectrum of <i>ALDH3A2</i> that is applicable for further molecular studies and management of SLS. ...[more]
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