C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload
نویسندگان
چکیده
منابع مشابه
A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.
BACKGROUND Mutations in the erythroid-specific 5-aminolevulinate-synthase gene (ALAS2) have been identified in many cases of X-linked sideroblastic anemia (XLSA). METHODS A polymerase chain reaction-mediated restriction fragment length polymorphism (RFLP) assay was used. RESULTS A G527T point mutation was identified. This resulted in a substitution of tyrosine for asparagine at residue 159 ...
متن کاملX-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).
Mutations in the erythroid-specific aminolevulinic acid synthase gene (ALAS2) cause X-linked sideroblastic anemia (XLSA) by reducing mitochondrial enzymatic activity. Surprisingly, a patient with the classic XLSA phenotype had a novel exon 11 mutation encoding a recombinant enzyme (p.Met567Val) with normal activity, kinetics, and stability. Similarly, both an expressed adjacent XLSA mutation, p...
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The uptake of iron by the absorptive cells of the duodenum, and its subsequent transfer to the lamina propria, has been studied using “Fe and high-resolution radioautography in mice rendered iron deficient by diet, in mice with dietary iron overload, and in mice with hereditary malabsorption of iron (s/a). In all, as in normally iron replete mice, two phases of iron absorption can be distinguis...
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15 صفحه اولX-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia. In affected males, it is uniformly associated with partial loss-of-function missense mutations in the erythroid-specific heme biosynthesis protein 5-aminolevulinate synthase 2 (ALAS2). Here, we report five families with XLSA owing to mutations in a GATA transcription factor binding site located in a...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2008
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2008.08.003