Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis.
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چکیده
منابع مشابه
Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis.
Pseudohypoaldosteronism type 1 (PHA1) is an uncommon inherited disorder characterized by salt-wasting in infancy arising from target organ unresponsiveness to mineralocorticoids. Clinical expression of the disease varies from severely affected infants who may die to apparently asymptomatic individuals. Inheritance is Mendelian and may be either autosomal dominant or autosomal recessive. A defec...
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, ...
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Sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. Hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date. According to the studies, mutations in GJB2 are estimated to be involved in 50- 80% of autosomal recessive non-syndromic hearing loss cases, but contribution of other loci in this disorder is yet ambig...
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Pseudohypoaldosteronism type 1 (PHA1) is a rare disease that manifests in infancy with hyponatremia, hyperkalemia, and metabolic acidosis, regardless of renin-angiotensin system (RAS) hyperactivity. PHA1 has autosomal recessive systemic and autosomal dominant renal forms. The systemic form of PHA1 is characterized by severe resistance to aldosterone in multiple organs, including the kidney, col...
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m Seven loci for dominant retinitis pigmentoeehave been described in the literature. These include the Rhodopsin and Rdslperipherin genee. and anonymous loci identtfted only by linkage on 7p, 7q. aq, 17p and 19q. We wishedto estimatethe frequendesof the anonymous loci, and determinewhether any adRP loci remained to be found. &@g& DNAe were colleded from twenty ftve adRP families. These were tes...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 1995
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jcem.80.11.7593448