Insights into the genotype-phenotype correlation and molecular function of SLC25A46

Molecular basis of Bartter's syndrome: new insights into the correlation between genotype and phenotype.

The kidney plays a key role in determining the long-term set points of fluid and electrolyte balance, maintaining homoeostasis despite wide variation in environmental exposure. Maintenance of the correct ionic composition and volume of the intravascular space is critical for normal neuromuscular function, delivery of oxygen and nutrients to tissues, as well as for blood pressure. Derangements i...

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare autosomal recessive disease, caused by mutations of a single gene named autoimmune regulator gene (AIRE) which results in a failure of T cell tolerance within the thymus. Chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and Addison's disease are the hallmarks of the syndrome. APECED is also character...

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

OBJECTIVE To clarify the genotype-phenotype correlation and elucidate the role of digenic inheritance in cystinuria. METHODS 164 probands from the International Cystinuria Consortium were screened for mutations in SLC3A1 (type A) and SLC7A9 (type B) and classified on the basis of urine excretion of cystine and dibasic amino acids by obligate heterozygotes into 37 type I (silent heterozygotes)...

Genotype-phenotype correlation in XLHED: insights into the biology of ectodysplasin

X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common of the ectodermal dysplasias, with a classic presentation of hypodontia, hypohidrosis, hypotrichosis and secretory gland hypoplasia. Mutations in the ectodysplasin gene (EDA) underlie XLHED with nearly 200 different mutations reported. EDA encodes a type 2 transmembrane protein of the TNF family (EDAA1), the active form of wh...