Article
Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.
Human mutation - 1 Aug 2021
Rajeshwari Mohan, Karthi Sellamuthu, Singh Reetu, Efthymiou Stephanie, Gowda Vykuntaraju K, Varalakshmi Perumal, Srinivasan Varunvenkat M, Houlden Henry, Keller Markus A, Rizzo William B, Ashokkumar Balasubramaniem
Abstract excerpt
Mutations in ALDH3A2 cause Sjögren-Larsson syndrome (SLS), a neuro-ichthyotic condition due to the deficiency of fatty aldehyde dehydrogenase (FALDH). We screened for novel mutations causing SLS among Indian ethnicity, characterized the identified mutations in silico and in vitro, and retrospectively evaluated their role in phenotypic heterogeneity. Interestingly, asymmetric distribution of nonclassical traits...
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