Elisabeth Bendstrup

Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis

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Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis. / Jönsson, Åsa Lina M.; Bendstrup, Elisabeth; Mogensen, Susie; Kopras, Elizabeth J.; McCormack, Francis X.; Campo, Ilaria; Mariani, Francesca; Escribano-Montaner, Amparo; Holm, Are M.; Martinez-Colls, Maria Del Mar; Pintos-Morell, Guillem; Taillé, Camille; Crestani, Bruno; Hilberg, Ole; Hvarregaard Christensen, Jane; Simonsen, Ulf.

In: The European Respiratory Journal, Vol. 55, No. 2, 1900806, 02.2020.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

Harvard

Jönsson, ÅLM, Bendstrup, E, Mogensen, S, Kopras, EJ, McCormack, FX, Campo, I, Mariani, F, Escribano-Montaner, A, Holm, AM, Martinez-Colls, MDM, Pintos-Morell, G, Taillé, C, Crestani, B, Hilberg, O, Hvarregaard Christensen, J & Simonsen, U 2020, 'Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis', The European Respiratory Journal, vol. 55, no. 2, 1900806. https://doi.org/10.1183/13993003.00806-2019

APA

Jönsson, Å. L. M., Bendstrup, E., Mogensen, S., Kopras, E. J., McCormack, F. X., Campo, I., Mariani, F., Escribano-Montaner, A., Holm, A. M., Martinez-Colls, M. D. M., Pintos-Morell, G., Taillé, C., Crestani, B., Hilberg, O., Hvarregaard Christensen, J., & Simonsen, U. (2020). Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis. The European Respiratory Journal, 55(2), [1900806]. https://doi.org/10.1183/13993003.00806-2019

CBE

Jönsson ÅLM, Bendstrup E, Mogensen S, Kopras EJ, McCormack FX, Campo I, Mariani F, Escribano-Montaner A, Holm AM, Martinez-Colls MDM, Pintos-Morell G, Taillé C, Crestani B, Hilberg O, Hvarregaard Christensen J, Simonsen U. 2020. Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis. The European Respiratory Journal. 55(2):Article 1900806. https://doi.org/10.1183/13993003.00806-2019

MLA

Vancouver

Author

Jönsson, Åsa Lina M. ; Bendstrup, Elisabeth ; Mogensen, Susie ; Kopras, Elizabeth J. ; McCormack, Francis X. ; Campo, Ilaria ; Mariani, Francesca ; Escribano-Montaner, Amparo ; Holm, Are M. ; Martinez-Colls, Maria Del Mar ; Pintos-Morell, Guillem ; Taillé, Camille ; Crestani, Bruno ; Hilberg, Ole ; Hvarregaard Christensen, Jane ; Simonsen, Ulf. / Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis. In: The European Respiratory Journal. 2020 ; Vol. 55, No. 2.

Bibtex

@article{fbfe1e806848411e8a0d216c1f12c526,
title = "Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis",
abstract = "BACKGROUND: Pulmonary alveolar microlithiasis (PAM) is caused by genetic variants in the SLC34A2 gene, which encodes the sodium-dependent phosphate transport protein 2B (NaPi-2b). PAM is characterised by deposition of calcium phosphate concretions (microliths) in the alveoli leading to pulmonary dysfunction. The variant spectrum of SLC34A2 has not been well investigated and it is not yet known whether a genotype-phenotype correlation exists. METHODS: We collected DNA from 14 patients with PAM and four relatives, and analysed the coding regions of SLC34A2 by direct DNA sequencing. To determine the phenotype characteristics, clinical data were collected and a severity score was created for each variant, based on type and localisation within the protein. RESULTS: We identified eight novel allelic variants of SLC34A2 in 14 patients with PAM. Four of these were nonsense variants, three were missense and one was a splice site variant. One patient was heterozygous for two different variants and all other patients were homozygous. Four patients were asymptomatic and 10 patients were symptomatic. The severity of the disease was associated with the variant severity. CONCLUSIONS: Our findings support a significant role for SLC34A2 in PAM and expand the variant spectrum of the disease. Thus, SLC34A2 variants were detected in all patients and eight novel allelic variants were discovered. An association between disease severity and the severity of the variants was found; however, this needs to be investigated in larger patient populations.",
author = "J{\"o}nsson, {{\AA}sa Lina M.} and Elisabeth Bendstrup and Susie Mogensen and Kopras, {Elizabeth J.} and McCormack, {Francis X.} and Ilaria Campo and Francesca Mariani and Amparo Escribano-Montaner and Holm, {Are M.} and Martinez-Colls, {Maria Del Mar} and Guillem Pintos-Morell and Camille Taill{\'e} and Bruno Crestani and Ole Hilberg and {Hvarregaard Christensen}, Jane and Ulf Simonsen",
year = "2020",
month = feb,
doi = "10.1183/13993003.00806-2019",
language = "English",
volume = "55",
journal = "European Respiratory Journal",
issn = "0903-1936",
publisher = "European Respiratory Society",
number = "2",

}

RIS

TY - JOUR

T1 - Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis

AU - Jönsson, Åsa Lina M.

AU - Bendstrup, Elisabeth

AU - Mogensen, Susie

AU - Kopras, Elizabeth J.

AU - McCormack, Francis X.

AU - Campo, Ilaria

AU - Mariani, Francesca

AU - Escribano-Montaner, Amparo

AU - Holm, Are M.

AU - Martinez-Colls, Maria Del Mar

AU - Pintos-Morell, Guillem

AU - Taillé, Camille

AU - Crestani, Bruno

AU - Hilberg, Ole

AU - Hvarregaard Christensen, Jane

AU - Simonsen, Ulf

PY - 2020/2

Y1 - 2020/2

N2 - BACKGROUND: Pulmonary alveolar microlithiasis (PAM) is caused by genetic variants in the SLC34A2 gene, which encodes the sodium-dependent phosphate transport protein 2B (NaPi-2b). PAM is characterised by deposition of calcium phosphate concretions (microliths) in the alveoli leading to pulmonary dysfunction. The variant spectrum of SLC34A2 has not been well investigated and it is not yet known whether a genotype-phenotype correlation exists. METHODS: We collected DNA from 14 patients with PAM and four relatives, and analysed the coding regions of SLC34A2 by direct DNA sequencing. To determine the phenotype characteristics, clinical data were collected and a severity score was created for each variant, based on type and localisation within the protein. RESULTS: We identified eight novel allelic variants of SLC34A2 in 14 patients with PAM. Four of these were nonsense variants, three were missense and one was a splice site variant. One patient was heterozygous for two different variants and all other patients were homozygous. Four patients were asymptomatic and 10 patients were symptomatic. The severity of the disease was associated with the variant severity. CONCLUSIONS: Our findings support a significant role for SLC34A2 in PAM and expand the variant spectrum of the disease. Thus, SLC34A2 variants were detected in all patients and eight novel allelic variants were discovered. An association between disease severity and the severity of the variants was found; however, this needs to be investigated in larger patient populations.

AB - BACKGROUND: Pulmonary alveolar microlithiasis (PAM) is caused by genetic variants in the SLC34A2 gene, which encodes the sodium-dependent phosphate transport protein 2B (NaPi-2b). PAM is characterised by deposition of calcium phosphate concretions (microliths) in the alveoli leading to pulmonary dysfunction. The variant spectrum of SLC34A2 has not been well investigated and it is not yet known whether a genotype-phenotype correlation exists. METHODS: We collected DNA from 14 patients with PAM and four relatives, and analysed the coding regions of SLC34A2 by direct DNA sequencing. To determine the phenotype characteristics, clinical data were collected and a severity score was created for each variant, based on type and localisation within the protein. RESULTS: We identified eight novel allelic variants of SLC34A2 in 14 patients with PAM. Four of these were nonsense variants, three were missense and one was a splice site variant. One patient was heterozygous for two different variants and all other patients were homozygous. Four patients were asymptomatic and 10 patients were symptomatic. The severity of the disease was associated with the variant severity. CONCLUSIONS: Our findings support a significant role for SLC34A2 in PAM and expand the variant spectrum of the disease. Thus, SLC34A2 variants were detected in all patients and eight novel allelic variants were discovered. An association between disease severity and the severity of the variants was found; however, this needs to be investigated in larger patient populations.

UR - http://www.scopus.com/inward/record.url?scp=85080827318&partnerID=8YFLogxK

U2 - 10.1183/13993003.00806-2019

DO - 10.1183/13993003.00806-2019

M3 - Journal article

C2 - 31831582

AN - SCOPUS:85080827318

VL - 55

JO - European Respiratory Journal

JF - European Respiratory Journal

SN - 0903-1936

IS - 2

M1 - 1900806

ER -