Genotype and phenotype variability in Sj ögren‐Larsson syndrome

We describe the broad, heterogenic spectrum of phenotypes among SLS patients, which is caused by patient ‐to‐patient variability in combination with inconsistent reporting in literature. Furthermore, based on these data we established a set of guidelines that will ensure comprehensive SLS patient reporting in the future. AbstractThe Sj ögren–Larsson syndrome (SLS) is a rare autosomal recessive disorder caused by pathogenic variants in theALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH). FALDH prevents the accumulation of toxic fatty aldehydes by converting them into fatty acids. PathogenicALDH3A2 variants cause symptoms such as ichthyosis, spasticity, intellectual disability, and a wide range of less common clinical features.Interpreting patient ‐to‐patient variability is often complicated by inconsistent reporting and negatively impacts on establishing robust criteria to measure the success of SLS treatments. Thus, with this study, patient‐centered literature data was merged into a concise genotype‐based, open‐access database (www.LOVD.nl/ALDH3A2). One hundred and seventy eight individuals with 90 unique SLS ‐causing variants were included with phenotypic data being available for more than 90%. While the three lead symptoms did occur in almost all cases, more heterogeneity was observed for other frequent clinical manifestations of SLS.However, a stringent genotype –phenotype correlation analysis was hampered by the considerable variabil...
Source: Human Mutation - Category: Genetics & Stem Cells Authors: Tags: DATABASES Source Type: research