Sjögren–Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

Abstract

Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder characterized by mental retardation, spasticity and ichthyosis. SLS patients have a profound deficiency in fatty aldehyde dehydrogenase (FALDH) activity. We have now cloned the human FALDH cDNA and show that it maps to the SLS locus on chromosome 17p11.2. Sequence analysis of FALDH amplified from fibroblast mRNA and genomic DNA from 3 unrelated SLS patients reveals distinct mutations, including deletions, an insertion and a point mutation. The cloning of FALDH and the identification of mutations in SLS patients opens up possibilities for developing therapeutic approaches to ameliorate the neurologic and cutaneous symptoms of the disease.

Characterization of the human ω‐oxidation pathway for ω‐hydroxy‐very‐long‐chain fatty acids

“…At present, 19 distinct aldehyde dehydrogenase genes have been identified in the human genome (31). At least three ALDHs have been localized to the endoplasmic reticulum and are encoded by the ALDH3B1, ALDH3B2, and ALDH3A2 genes (32)(33)(34). ALDH3B1 is expressed mainly in kidney and lung and ALDH3B2 is expressed in the parotid glands.…”

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

“…Diseases that are classically regarded as ichthyosis in the previously published scientific literature and that will continue to be included are shown in Figs 4 and 5. They include Sjögren-Larsson syndrome 75,76 ( Fig 5, B), Refsum syndrome, 77,78 neutral lipid storage disease with ichthyosis (also referred to as ChanarinDorfman syndrome) (Fig 5, G), 40,79,80 ichthyosis folliculariseatrichiaephotophobia syndrome (Fig 5, D), 81,82 Conradi-Hünermann-Happle syndrome (CDPX2) (Fig 5, F ), 83,84 multiple sulfatase deficiency, 85,86 congenital reticular ichthyosiform erythroderma also referred to as ichthyosis variegata 87 (or ichthyosis en confettis 88 ) (Fig 4, E ), and ichthyosis prematurity syndrome 89,90 (Fig 5, E ). In ichthyosis prematurity syndrome, affected pregnancies exhibit abnormal amniotic fluid both on ultrasound imaging and clinically.…”

Expecting the most unexpected – a harlequin baby! A case report and literature analysis

“…Sjogren-Larsson syndrome -Fatty aldehyde dehydrogenase defect [15]. Autosomal recessive congenital ichthyosis -Lipoxygenase-3 and 12R-lipoxygenase defect [16].…”