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

Maryam Taghdiri; Atie Kashef; Majid Fardaei; Mohammad Miryounesi

doi:10.1002/ccr3.1235

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

Clin Case Rep. 2017 Nov 22;6(1):32-36. doi: 10.1002/ccr3.1235. eCollection 2018 Jan.

Authors

Maryam Taghdiri^{1

2}, Atie Kashef¹, Majid Fardaei^{2

3}, Mohammad Miryounesi⁴

Affiliations

¹ Genetic counseling Center Welfare Organization ShirazIran.
² Comprehensive Medical Genetics Center Shiraz University of Medical Sciences ShirazIran.
³ Department of medical Genetics Shiraz University of Medical Sciences ShirazIran.
⁴ Genomics Research Center Shahid Beheshti University of Medical Sciences TehranIran.

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.

Keywords: ALDH3A2 gene; Sjögren–Larsson syndrome; congenital neuroichthyosis; deletion.

Publication types

Case Reports