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A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis.

ABSTRACT: 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).

SUBMITTER: Izumi H

PROVIDER: S-EPMC5267164 | biostudies-other | 2017

REPOSITORIES: biostudies-other

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A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis.

Izumi Hiroki H Kurai Jun J Kodani Masahiro M Watanabe Masanari M Yamamoto Akihiro A Nanba Eiji E Adachi Kaori K Igishi Tadashi T Shimizu Eiji E

Human genome variation 20170126

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). ...[more]

PMID: 28144448

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SLC34A2 gene compound heterozygous mutation identification in a patient with pulmonary alveolar microlithiasis and computational 3D protein structure prediction.

Project description:We recently diagnosed a patient with pulmonary alveolar microlithiasis (PAM). Because loss-of-function mutations of the SLC34A2 gene are responsible for the development of PAM, we sought to sequence the SLC34A2 gene of the patient and his direct relatives, with a purpose to identify mutations that caused the PAM of the patient as well as the carriers of his family. We found a novel compound heterozygous mutation of the SLC34A2 gene in this patient, which were the mutations of c.1363T > C (p. Y455H) in exon 12 and c.910A > T (p. K304X) in exon 8. Computational prediction of three-dimensional (3D) structures of the mutants revealed that the Y455H mutation resulted in a formation of irregular coils in the trans-membrane domain and the K304X mutation resulted in protein truncation. Our study suggested that sequencing of the SLC34A2 gene together with a computational prediction of the 3D structures of the mutated proteins may be useful in PAM diagnosis and prognosis.

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

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Pulmonary alveolar microlithiasis: no longer in the stone age.

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Pulmonary alveolar microlithiasis diagnosed with radiography, CT, and bone scintigraphy.

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