AI Article Synopsis
- Sjögren-Larsson syndrome (SLS) is a genetic neurocutaneous disorder linked to mutations in the ALDH3A2 gene, leading to symptoms like ichthyosis, mental retardation, and spastic diplegia.
- Researchers have identified over 70 different mutations in the ALDH3A2 gene in SLS patients.
- In this study, two brothers diagnosed with SLS exhibited brain demyelination, and a new homozygous mutation (c. 835 T > A) was found in their genetic analysis.
Article Abstract
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. We diagnosed two brothers age of 12 and 20 years with characteristic features of this rare syndrome. Magnetic resonance imaging showed demyelinating disease in both of them. We described a novel homozygous, c. 835 T > A (p.Y279N) mutation in exon 6 in two patients.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3788300 | PMC |
| http://dx.doi.org/10.4103/0972-2327.116927 | DOI Listing |
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