A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis

被引：17

作者：

Izumi H. ^{[1
]}

Kurai J. ^{[1
]}

Kodani M. ^{[1
]}

Watanabe M. ^{[1
]}

Yamamoto A. ^{[1
]}

Nanba E. ^{[2
]}

Adachi K. ^{[2
]}

Igishi T. ^{[1
]}

Shimizu E. ^{[1
]}

机构：

[1] Faculty of Medicine, Division of Medical Oncology and Molecular Respirology, Tottori University, Yonago

[2] Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Yonago

来源：

Human Genome Variation | / 4卷 / 1期

基金：

日本学术振兴会;

关键词：

D O I：

10.1038/hgv.2016.47

中图分类号：

学科分类号：

摘要：

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease caused by mutations in SLC34A2 and characterized by intra-alveolar accumulation of microliths. We diagnosed a case of PAM in a 27-year-old Japanese female and identified a novel mutation in SLC34A2 (c.1390 G>C [G464R] in exon 12). © 2017 The Author(s).

引用

共 16 条

[1]

Tachibana T., Hagiwara K., Johkoh T., Pulmonary alveolar microlithiasis: Review, management, Curr Opin Pulm Med, 15, pp. 486-490, (2009)

[2]

Corut A., Senyigit A., Ugur S.A., Altin S., Ozcelik U., Calisir H., Et al., Mutations in SLC34A2 cause pulmonary alveolar microlithiasis, are possibly associated with testicular microlithiasis, Am J Hum Genet, 79, pp. 650-656, (2006)

[3]

Vismara M.F.M., Colao E., Fabiani F., Bombardiere F., Tamburrini O., Alessio C., Et al., The sodium-phosphate co-transporter SLC34A2, pulmonary alveolar microlithiasis: Presentation of an inbred family, a novel truncating mutation in exon 3, Respir Med Case Rep, 16, pp. 77-80, (2015)

[4]

Castellana G., Castellana G., Gentile M., Castellana R., Resta O., Pulmonary alveolar microlithiasis: Review of the 1022 cases reported worldwide, Eur Respir Rev, 24, pp. 607-620, (2015)

[5]

Adzhubei I.A., Schmidt S., Peshkin L., Ramensky V.E., Gerasimova A., Bork P., Et al., A method, server for predicting damaging missense mutations, Nat Methods, 7, pp. 248-249, (2010)

[6]

Schwarz J.M., Cooper D.N., Schuelke M., Seelow D., MutationTaster2: Mutation prediction for the deep-sequencing age, Nat Methods, 11, pp. 361-362, (2014)

[7]

Huqun S., Izumi S., Miyazawa H., Ishii K., Uchiyama B., Ishida T., Et al., Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis, Am J Respir Crit Care Med, 175, pp. 263-268, (2007)

[8]

Proesmans M., Boon M., Verbeken E., Ozcelik U., Kiper N., Van De Casseye W., Et al., Pulmonary alveolar microlithiasis: A case report, review of the literature, Eur J Pediatr, 171, pp. 1069-1072, (2012)

[9]

Jonsson A.L.M., Hilberg O., Bendstrup E.M., Mogensen S., Simonsen U., SLC34A2 gene mutation may explain comorbidity of pulmonary alveolar microlithiasis, aortic valve sclerosis, Am J Respir Crit Care Med, 185, (2012)

[10]

Ishihara Y., Hagiwara K., Zen K., Huqun Hosokawa Y., Natsuhara A., A case of pulmonary alveolar microlithiasis with an intragenetic deletion in SLC34A2 detected by a genome-wide SNP study, Thorax, 64, pp. 365-367, (2009)

← 1 2 →