Sjögren-Larsson syndrome due to a novel mutation in the FALDH gene
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چکیده
منابع مشابه
Expanding the Genotype of Sjögren-Larsson Syndrome: A New Case Due to Two Novel Mutations.
However, some of these patients develop SCARs related to sorafenib, such as Drug Reaction with Eosynophilia and Systemic Symptoms (DRESS), SJS or AGEP.5,6,8,9 To our knowledge, only 2 more cases of sorafenib-induced acute exanthematous pustulosis have been published, being one of them an acute localized exanthematous pustulosis (ALEP) and the other one a complete AGEP.5,6 The main features of t...
متن کاملSjögren-Larsson syndrome in a Turkish family.
Sjogren-Larsson syndrome, first described by Sjogren in 1956, and then jointly with Larsson in 1957, is known to occur in different populations throughout the world (Blumel, Watkins, and Eggers, 1958; Richards, 1960; Link and Roldan, 1958; Zaleski, 1962; Heijer and Reed, 1965; Selmanowitz and Porter, 1967). The condition appears to be a clinical and pathological entity characterized by ichthyos...
متن کاملSjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation.
Sjögren-Larsson syndrome is an autosomal recessive neurocutaneous disease caused by mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, a microsomal enzyme that catalyzes the oxidation of medium- and long-chain aliphatic aldehydes fatty acids. We studied three Turkish Sjögren-Larsson syndrome patients with ichthyosis, developmental delay, spastic diplegia, and brain white matter dis...
متن کاملLarge contiguous gene deletions in Sjögren-Larsson syndrome.
Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. More than 70 mutations have been identified in SLS patients, including small deletions or insertions, missense mutations, splicing ...
متن کاملIdentification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome
Sjögren-Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in ALDH3A2 gene are known to be responsible for this syndrome. Here, we report an Iranian family with congenital SLS bearing a novel two-base-pair deletion within ALDH3A2 genomic sequence. Our finding expands the mutation spectrum of ALDH3A2 that is...
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ژورنال
عنوان ژورنال: European Journal of Dermatology
سال: 2011
ISSN: 1167-1122,1952-4013
DOI: 10.1684/ejd.2011.1286