Novel homozygous insertion in @entity25111 gene caused XXXX .

@entity1 @entity25114 @entity8 @entity30256 @entity24459 @entity10430 @entity36620 @entity72671 @entity1790 @entity4334 @entity74 @entity810 @entity25111 @entity1791 @entity414
@entity8 is a @entity74 characterized by impaired @entity414 handling in the renal tubules. @entity1 are usually asymptomatic; however, some may experience @entity1791 and/or @entity810 . Most of the described @entity1 (compound heterozygous and/or homozygous) are Japanese with mutations in the @entity24459 gene (OMIM #220150). Four @entity1 with @entity8 caused by heterozygous defects and two families with homozygous mutations in the @entity25111 gene have been recently described (OMIM #612076). We describe the clinical history, biochemical and molecular genetics findings of a Czech family with @entity8 . The concentration of serum @entity414 in the proband (16-year-old Czech @entity1 with unrelated parents) was 0.17    0.05 mg/dl and expressed as an increase in the fractional excretion of @entity414 (194    99%). The sequencing analysis of the coding region of @entity414 transporters @entity24459 , @entity25111 , @entity30256 , @entity36620 and @entity10430 , was performed. Analysis of genomic DNA revealed novel one @entity4334 homozygote insertion in exon 3 in the @entity25111 gene in proband and her brother resulting in a truncated protein ( @entity72671 ). No sequence variants in other candidate @entity414 transporter were found. Homozygous loss-of-function mutations cause massive @entity8 via total loss of @entity414 absorption; however, they do not necessarily lead to @entity1790 and @entity810 . In contrast to previously reported heterozygous @entity1 with @entity8 , we did not find even slight @entity25114 and found no decrease in the FE-UA of the heterozygous parents of the reported siblings.
