A novel genetic variant of pulmonary alveolar microlithiasis

Alwedaie, SayedMohammed Jawad; Panjwani, Amit; Kadhem, Husain; Alawadhi, AmnaMohammad Tayeb

doi:10.4103/lungindia.lungindia_524_21

Cited by 2 publications

(2 citation statements)

References 7 publications

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“…To date, approximately 40 pathogenic variants in SLC34A2 have been reported. Based on the summary of SLC34A2 gene mutations by Bendstrup et al, 16 we searched PubMed and Web of Science for the recent 3 years until Feb 1, 2023, and updated seven novel pathogenic variants in Table 1, namely c.286 C > T, 20 c.448 G > A, 21 c.524–1 G > C, 22 EXON 2–6 duplication, c.1218 C > A, c.1493 G > T, 23 c.1653_1660del 24 . The types of DNA variants included four substitutions, one deletion, one splicing site and one duplication.…”

Section: Discussionmentioning

confidence: 99%

Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review

Zhang

Gao

Liu

et al. 2023

Clinical Case Reports

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Key Clinical MessageWe reported a case of a 7‐year‐old boy with pulmonary alveolar microlithiasis (PAM) and detected two novel compound heterozygous mutations of solute carrier family 34 member 2 (SLC34A2), EXON:2–6 duplication and c.1218 (EXON:11) C > A (p. Phe406Leu). His symptoms were nonspecific. Chest computed tomography (CCT) showed bronchiectasis, a mosaic feature, and extensive calcifications in both lungs. In addition, bronchoscopy showed bronchitis obliterans which has rarely been reported as a complication in the literature. This case aimed to explore the mechanism of PAM and emphasize the role of gene analysis in diagnosing rare pediatric diseases. Finally, we undertook a review of the current literature containing SLC34A2 gene mutations to update the gene mutation spectrum of PAM.

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Section: Discussionmentioning

confidence: 99%

Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review

Zhang

Gao

Liu

et al. 2023

Clinical Case Reports

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“… Donor-splice site Yes †† [ 3 ] 56 Hom 12 c.1342delG p.Val448Ter TMD 8 Yes [ 5 ] 57–58 Hom 12 c.1342_1361del p.Val448LeufsTer209 TMD 8 NA [ 85 , 91 ] 59–60 Hom 12 c.1390G>C p.Gly464Arg TMD 9 Yes [ 3 ] 61–63 Hom 12 c.1402_1404delACC p.Thr468del TMD 9 Yes [ 2 , 3 ] 64 Hom 12 c.1456C>T p.Gln486Ter Small EC-loop btw. TMDs 9–10 Yes [ 82 ] 65–66 Hom 13 c.1493G>T p.Gly498Val TMD 10 Yes [ 93 ] 67 Hom 13 c.1653_1660del p.Trp552AlafsTer80 ‡‡ …”

Section: The Spectrum Of Allelic Variants In Pammentioning

confidence: 99%

New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review

Jönsson

Hilberg

Simonsen

et al. 2023

Orphanet J Rare Dis

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Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive lung disease caused by variants in the SLC34A2 gene encoding the sodium-dependent phosphate transport protein 2B, NaPi-2b. PAM is characterized by deposition of calcium phosphate crystals in the alveoli. Onset and clinical course vary considerably; some patients remain asymptomatic while others develop severe respiratory failure with a significant symptom burden and compromised survival. It is likely that PAM is under-reported due to lack of recognition, misdiagnosis, and mild clinical presentation. Most patients are genetically uncharacterized as the diagnostic confirmation of PAM has traditionally not included a genetic analysis. Genetic testing may in the future be the preferred tool for diagnostics instead of invasive methods. This systematic review aims to provide an overview of the growing knowledge of PAM genetics. Rare variants in SLC34A2 are found in almost all genetically tested patients. So far, 34 allelic variants have been identified in at least 68 patients. A majority of these are present in the homozygous state; however, a few are found in the compound heterozygous form. Most of the allelic variants involve only a single nucleotide. Half of the variants are either nonsense or frameshifts, resulting in premature termination of the protein or decay of the mRNA. There is currently no cure for PAM, and the only effective treatment is lung transplantation. Management is mainly symptomatic, but an improved understanding of the underlying pathophysiology will hopefully result in development of targeted treatment options. More standardized data on PAM patients, including a genetic diagnosis covering larger international populations, would support the design and implementation of clinical studies to the benefit of patients. Further genetic characterization and understanding of how the molecular changes influence disease phenotype will hopefully allow earlier diagnosis and treatment of the disease in the future.

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A novel genetic variant of pulmonary alveolar microlithiasis

Cited by 2 publications

References 7 publications

Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review

Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review

New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review

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