Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis

Basit Öğe Kaydı
dc.contributor.authorCorut, Ayse
dc.contributor.authorSenyigit, Abdurrahman
dc.contributor.authorUgur, Sibel Aylin
dc.contributor.authorAltin, Sedat
dc.contributor.authorOzcelik, Ugur
dc.contributor.authorCalisir, Haluk
dc.contributor.authorYildirim, Zeki
dc.date.accessioned2024-04-24T17:07:58Z
dc.date.available2024-04-24T17:07:58Z
dc.date.issued2006
dc.departmentDicle Üniversitesien_US
dc.description.abstractPulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. We first identified a PAM locus by homozygosity mapping to 4p15, then identified, by a candidate-gene approach, the gene responsible for the disease as SLC34A2 (the type IIb sodium-phosphate cotransporter gene), which is involved in phosphate homeostasis in several organs. We identified six homozygous exonic mutations in the seven unrelated patients with PAM we studied. Three of the mutations were frameshifts, one was a chain termination, one was an amino acid substitution, and one was a deletion spanning the minimal promoter and the first exon. Absence of functional protein product of the gene is compatible with calcium phosphate deposition in alveolar airspaces. We show that impaired activity of the phosphate transporter is presumably responsible for the microliths and that PAM is a recessive monogenic disease with full penetrance. Testicular microlithiasis (TM) is a disease that is more common than PAM. It is often associated with cancer and infertility. Since the gene we identified is also expressed in testis, we searched for mutations in subjects with TM. In 2 of the 15 subjects with TM we studied, we identified two rare variants, one synonymous and the other noncoding, that are possibly associated with the condition.en_US
dc.identifier.doi10.1086/508263
dc.identifier.endpage656en_US
dc.identifier.issn0002-9297
dc.identifier.issn1537-6605
dc.identifier.issue4en_US
dc.identifier.pmid16960801en_US
dc.identifier.scopus2-s2.0-33749008222en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage650en_US
dc.identifier.urihttps://doi.org/10.1086/508263
dc.identifier.urihttps://hdl.handle.net/11468/17126
dc.identifier.volume79en_US
dc.identifier.wosWOS:000240855900006en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherCell Pressen_US
dc.relation.ispartofAmerican Journal of Human Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject[No Keyword]en_US
dc.titleMutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasisen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu