title: The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3.
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.
authors.affiliation: Medical Genetics Residency Program TorVergata University of Rome, Italy; Medical Genetics Unit, Mater Domini University Hospital, Catanzaro, Italy; Molecular Medicine Department, Sapienza University of Rome, Italy.
authors.forename: Marco Favio Michele
authors.initials: MF
authors.lastname: Vismara
authors.affiliation: Medical Genetics Unit, Mater Domini University Hospital, Catanzaro, Italy.
authors.forename: Emma
authors.initials: E
authors.lastname: Colao
authors.affiliation: Medical Genetics Unit, Mater Domini University Hospital, Catanzaro, Italy.
authors.forename: Fernanda
authors.initials: F
authors.lastname: Fabiani
authors.affiliation: Medical Genetics Residency Program TorVergata University of Rome, Italy; Medical Genetics Unit, Mater Domini University Hospital, Catanzaro, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Bombardiere
authors.affiliation: Radiology Unit, Clinical and Experimental Medicine Department, Magna Graecia University of Catanzaro, Italy.
authors.forename: Oscar
authors.initials: O
authors.lastname: Tamburrini
authors.affiliation: Radiology Unit, Clinical and Experimental Medicine Department, Magna Graecia University of Catanzaro, Italy.
authors.forename: Caterina
authors.initials: C
authors.lastname: Alessio
authors.affiliation: Radiology Unit, Clinical and Experimental Medicine Department, Magna Graecia University of Catanzaro, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Manti
authors.affiliation: Pneumology Unit, Medical and Surgical Sciences Department, Magna Graecia University of Catanzaro, Italy.
authors.forename: Gerolamo
authors.initials: G
authors.lastname: Pelaia
authors.affiliation: Pneumology Unit, Medical and Surgical Sciences Department, Magna Graecia University of Catanzaro, Italy.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Romeo
authors.affiliation: Medical Genetics Unit, Clinical and Experimental Medicine Department, Magna Graecia University of Catanzaro, Italy.
authors.forename: Rodolfo
authors.initials: R
authors.lastname: Iuliano
authors.affiliation: Medical Genetics Unit, Health Sciences Department, Magna Graecia University of Catanzaro, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Perrotti
keywords: AD, Autosomic dominant; AR, Autosomic recessive; CH, Compound heterozygous; Hsa, Homo sapiens; NaPi-IIb; OMIM, Online Mendelian inheritance in man; PAM, Pulmonar alveolar microlithiasis; PAS, Periodic acid-Schiff; Pulmonary alveolar microlithiasis; SLC34A2