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

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.

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.

Source: Clinical Case Reports - November 22, 2017 Category: General Medicine Authors: Maryam Taghdiri, Atie Kashef, Majid Fardaei, Mohammad Miryounesi Tags: Case Report Source Type: research