ArticleJournal of human genetics2019
Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.
Article in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review.Frontiers in genetics · 2026Pooled it
- Socio-genomics of intellectual disability in African populations: top research-producing countries.Journal of community genetics · 2026Review
- Clinical and genetic analysis of patients with Sjögren-Larsson syndrome in China.Orphanet journal of rare diseases · 2026Article
- Genotypic and Phenotypic Characteristics of Turkish Patients with Sjögren-Larsson Syndrome.Molecular syndromology · 2026Article
- The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.Italian journal of pediatrics · 2025Article
- Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.Molecular medicine reports · 2024Article
- ClinicalNeuroradiology · 2022Review
- Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.Orphanet journal of rare diseases · 2022Review
- Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum.JIMD reports · 2020Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disorder characterized by congenital ichthyosis, spastic diplegia and intellectual disability. It is an inborn error of lipid metabolism caused by biallelic mutations in the ALDH3A2 gene encoding the fatty aldehyde dehydrogenase that plays a pivotal role in metabolism of long-chain aliphatic aldehydes and alcohols. In this report, we describe the clinical, neuro-radiological and molecular findings of 35 patients with SLS. All patients shared the typical clinical manifestations of SLS including spasticity, ichthyosis and intellectual disability. Brain MRI demonstrated deep while matter affection in all patients that varied in severity. Mutational analysis of the ALDH3A2 gene revealed 16 distinct mutations including 11 previously unreported ones. Three mutations (p.S365L, p.R9* and p.G400R) were recurrent in our patients with frequencies ranging from 12 to 24%. Interestingly, patients carrying the two new mutations p.R9* and p.G400R shared similar haplotypes suggesting possible founder effects in our population. In conclusion, we present a large cohort of patients from the same ethnicity with the characteristic clinical and brain imaging findings of SLS but with variable inter and intra familial severity and expressivity. We also identified many novel and founder ALDH3A2 mutations thus expanding the mutational spectrum of the disorder.
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