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Clinical and Molecular Aspects of Sjogren-Larsson Syndrome Reported in an Iranian Consanguineous Family with Triplet Affected Individuals

AUTHORS

M Hosseini 1 , M Garshasbi 2 , S Hemmati 1 , H Darvish 1 , F Behjati 1 , A Kuss 2 , H Ropers 2 , A Tzschach 2 , H Najmabadi 1 , K Kahrizi 3 , *

1 Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Iran

2 Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran and Max-Planck Institute for Molecular Genetics, Germany

3 Professor of Medical Genetics, University of Social Welfare and Rehabilitation Sciences, Koodakyar St, Daneshjoo Blvd, Evin, kahrizi@yahoo.com, Iran

How to Cite: Hosseini M, Garshasbi M, Hemmati S, Darvish H, Behjati F, et al. Clinical and Molecular Aspects of Sjogren-Larsson Syndrome Reported in an Iranian Consanguineous Family with Triplet Affected Individuals, Iran Red Crescent Med J. Online ahead of Print ; 14(3):153-157.

ARTICLE INFORMATION

Iranian Red Crescent Medical Journal: 14 (3); 153-157
Article Type: Research Article
Received: October 5, 2011
Accepted: December 28, 2011

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Abstract

Background: Sjogren Larsson Syndrome (SLS; OMIM: 270200) is an autosomal recessive neuro­cutaneous disorder characterized by mental retardation, congenital ichthyosis and spastic paraplegia. SLS is caused by mutations in aldehyde dehydrogenase 3A2 isoform 2 (ALDH3A2), which encodes fatty aldehyde dehydrogenase (FALDH). This enzyme metabolizes the NAD-dependent oxidation of long chain aldehyde derived from lipid metabolism. Up to now, more than 72 mutations have been reported in SLS patients.

 

Methods: DNA was extracted from peripheral blood of all the five patients, one healthy sibling and their parents using standard procedures. SNP genotyping was performed using the GeneChip®. Multipoint linkage analyses and non-parametric linkage analysis was performed too.

 

Results: Here, we report an interesting family with five affected individuals with a novel splice site mutation (c.1107+1delGTA) in ALDH3A2.

 

Conclusion: In absence of capability to measure FALDH activity in Iran, DNA sequencing of the ALDH3A2 gene could lead to the identification of causative mutation and confirm the diagnosis.

Keywords

Sjogren-Larsson Skin disease Mutation Iran

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