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Article

Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.

European journal of medical genetics - 1 Mar 2018

Kariminejad Ariana, Barzgar Mohammadreza, Bozorgmehr Bita, Keshavarz Elham, Kariminejad Mohamad Hasan, S'Aulis Dana, Rizzo William B

Abstract excerpt

Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by ichthyosis, spasticity and intellectual disability. The disease is caused by mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase. We describe 7 Iranian SLS patients from 5 unrelated consanguineous families. Sequencing of ALDH3A2 identified 4 novel mutations, including a 26-bp deletion (c.25_50del), small...

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PMID: 29183715
DOI: 10.1016/j.ejmg.2017.11.006

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