Article ; Online: Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.
American journal of medical genetics. Part A
2011 Volume 155A, Issue 3, Page(s) 626–633
Abstract: ... 4225_50del) and a novel splice mutation (g.1226G>A) in SLC34A3, the gene encoding the renal sodium ... Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized by rickets ... a boy with HHRH, nephrolithiasis, and compound heterozygosity for one previously described mutation (g ...
| Abstract | Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized by rickets, hyperphosphaturia, hypophosphatemia, elevated 1,25-dihydroxyvitamin-D, increased gastrointestinal calcium absorption and hypercalciuria. Serum calcium, 25-hydroxyvitamin-D and PTH levels are normal. Here we describe a boy with HHRH, nephrolithiasis, and compound heterozygosity for one previously described mutation (g.4225_50del) and a novel splice mutation (g.1226G>A) in SLC34A3, the gene encoding the renal sodium-phosphate co-transporter NaPi-IIc. The patient's mother and grandmother are carriers of g.4225_50del, and both have a history of nephrolithiasis associated with hypercalciuria and elevated 1,25-dihydroxyvitamin-D. His three siblings (2-6 years old), who are also carriers of g.4225_50del, have hypercalciuria but so far their renal ultrasounds are normal. Thus, SLC34A3/NaPi-IIc mutations appear to be associated with variable phenotypic changes at presentation, which can include recurrent nephrolithiasis. |
|||||
|---|---|---|---|---|---|---|
| MeSH term(s) | Base Sequence ; Child, Preschool ; Familial Hypophosphatemic Rickets/complications ; Familial Hypophosphatemic Rickets/genetics ; Female ; Humans ; Hypercalciuria/complications ; Hypercalciuria/genetics ; Infant ; Infant, Newborn ; Male ; Molecular Sequence Data ; Mutation/genetics ; Nephrolithiasis/complications ; Nephrolithiasis/genetics ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; Pregnancy ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Restriction Mapping ; Reverse Transcriptase Polymerase Chain Reaction ; Sodium-Phosphate Cotransporter Proteins, Type IIc/genetics | |||||
| Chemical Substances | RNA, Messenger ; SLC34A3 protein, human ; Sodium-Phosphate Cotransporter Proteins, Type IIc | |||||
| Language | English | |||||
| Publishing date | 2011-02-22 | |||||
| Publishing country | United States | |||||
| Document type | Case Reports ; Journal Article | |||||
| ZDB-ID | 2108614-X | |||||
| ISSN | 1552-4833 ; 0148-7299 ; 1552-4825 | |||||
| ISSN (online) | 1552-4833 | |||||
| ISSN | 0148-7299 ; 1552-4825 | |||||
| DOI | 10.1002/ajmg.a.33832 | |||||
| Shelf mark |
|
|||||
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
Full text online
More links
Kategorien
In stock of ZB MED Cologne/Königswinter
| Zs.A 1376/A: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG) |
Order via subito
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.