Novel compound aquaporin 2 mutations in nephrogenic diabetes insipidus
نویسندگان
چکیده
Nephrogenic diabetes insipidus (NDI) is a rare disease that is characterized by the excretion of abnormally large volumes of urine, due to the inability of the kidneys to concentrate urine in response to arginine vasopressin (AVP). Classical NDI symptoms include polydipsia and polyuria in infants during the first year of life. Acquired NDI is the most common form of this disease in adults. The majority of inherited cases are caused by mutations in the arginine vasopressin V2 receptor (AVPR2) gene (MIM# 300538) on chromosome Xq28, which leads to functional defects in the AVPR2. The aquaporin (AQP2) gene (MIM# 107777) on chromosome 12q13 (1) is associated with the disease (2,3) in the minority of cases (,10%). The present study identified two novel compound heterozygous mutations in the AQP2 gene, H201Y and G211R, in one female patient with congenital NDI.
منابع مشابه
A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2.
Mutations in the vasopressin V2 receptor gene AVPR2 may cause X-linked nephrogenic diabetes insipidus by defective apical insertion of aquaporin-2 in the renal collecting duct principal cell. Substitution mutations with exchange of arginine at codon 137 can cause nephrogenic syndrome of inappropriate antidiuresis or congenital X-linked nephrogenic diabetes insipidus. We present a novel mutation...
متن کاملTwo Novel Mutations in the Aquaporin 2 Gene in a Girl with Congenital Nephrogenic Diabetes Insipidus
Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by insensitivity of the kidney to the antidiuretic effect of vasopressin. There are three inheritance patterns of CNDI: the X-linked recessive form associated with vasopressin V2 receptor gene mutations, and the autosomal recessive and dominant forms associated with aquaporin-2 gene (AQP2) mutations. The...
متن کاملNovel autosomal recessive gene mutations in aquaporin-2 in two Chinese congenital nephrogenic diabetes insipidus pedigrees.
Recent evidence has linked novel mutations in the arginine vasopressin receptor 2 gene (AVPR2) and aquaporin-2 gene (AQP2) present in Southeast Asian populations to congenital nephrogenic diabetes insipidus (NDI). To investigate mutations in 2 distinct Chinese pedigrees with NDI patients, clinical data, laboratory findings, and genomic DNA sequences from peripheral blood leukocytes were analyze...
متن کاملThe AQP2 mutation V71M causes nephrogenic diabetes insipidus in humans but does not impair the function of a bacterial homolog
Several point mutations have been identified in human aquaporins, but their effects on the function of the respective aquaporins are mostly enigmatic. We analyzed the impact of the aquaporin 2 mutation V71M, which causes nephrogenic diabetes insipidus in humans, on aquaporin structure and activity, using the bacterial aquaglyceroporin GlpF as a model. Importantly, the sequence and structure aro...
متن کاملNovel mutation of aquaporin-2 gene in a patient with congenital nephrogenic diabetes insipidus.
Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disease, characterized by an inability of the kidney to concentrate urine in response to vasopressin. Three different inheritance patterns have been described, i.e., the X-linked recessive form associated with arginine vasopressin V2 receptor (AVPR2) gene mutations, the autosomal recessive and dominant forms of CNDI associated...
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