Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1
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منابع مشابه
Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia
Recessive mutations in genes encoding mitochondrial DNA replication machinery lead to mitochondrial DNA depletion syndromes. This genetically and phenotypically heterogeneous group includes infantile onset spinocerebellar ataxia (OMIM# 271245) a neurodegenerative disease caused by mutations in the mtDNA helicase gene, c10orf2, with an increased frequency in the Finnish population due to a found...
متن کاملMineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1.
Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease of mineralocorticoid resistance characterized by salt wasting and failure to thrive in infancy. Here we describe the first case of a newborn with severe recessive PHA1 caused by two heterozygous mutations in NR3C2, gene coding for the mineralocorticoid receptor (MR). Independent segregation of the mutations occurred in the family, ...
متن کاملNovel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa.
PURPOSE To assess the contribution of TULP1 to autosomal recessive retinitis pigmentosa (arRP). METHODS Fifteen exons of the gene were screened by single-strand conformation polymorphism analysis of 7 (of 49) arRP pedigrees showing cosegregation with TULP1 locus markers. RESULTS In one of the seven families two allelic mutations, IVS4-2delAGA and c.937delC, were found in exons 5 and 10, res...
متن کاملAutosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene
BACKGROUND Autosomal dominant pseudohypoaldosteronism type 1 (PHA1) is a rare inherited condition that is characterized by renal resistance to aldosterone as well as salt wasting, hyperkalemia, and metabolic acidosis. Renal PHA1 is caused by mutations of the human mineralcorticoid receptor gene (MR), but it is a matter of debate whether MR mutations cause mineralcorticoid resistance via haploin...
متن کاملA case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene.
We report a neonatal case of systemic pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene (homozygous c.1052+2dupT in intron 3) in which the patient presented with life-threatening hyperkalemia, hyponatremia and metabolic acidosis. It remains uncertain if there is genotype-phenotype correlation, due to the rarity of the disease. This mutation, which to our best knowledg...
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ژورنال
عنوان ژورنال: European Journal of Endocrinology
سال: 2013
ISSN: 0804-4643,1479-683X
DOI: 10.1530/eje-12-1000