the sodium-phosphate co-transporter slc34a2, and pulmonary alveolar microlithiasis: presentation of an inbred family and a novel truncating mutation in exon 3
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ID: 225836
2015
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Abstract
Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of calcium phosphate gradually accumulate in alveoli. Loss of function mutations in the gene SLC34A2 coding for the sodium phosphate co-transporter (NaPi-IIb) are responsible for genetic forms of alveolar microlithiasis.
We now report a consanguineous Italian family from Calabria with two affected members segregating alveolar microlithiasis in a recessive fashion. We describe, for the first time, a novel loss of function mutation in the gene coding for NaPi-IIb. A careful description of the clinical phenotype is provided together with technical details for direct sequencing of the gene.
| Reference Key |
vismara2015respiratorythe
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| Authors | ;Marco Favio Michele Vismara;Emma Colao;Fernanda Fabiani;Francesco Bombardiere;Oscar Tamburrini;Caterina Alessio;Francesco Manti;Gerolamo Pelaia;Pasquale Romeo;Rodolfo Iuliano;Nicola Perrotti |
| Journal | current treatment options in cardiovascular medicine |
| Year | 2015 |
| DOI |
10.1016/j.rmcr.2015.08.002
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| URL | |
| Keywords | Keywords not found |
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