Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands

Affiliations

¹ Service de Néphrologie, Centre Hospitalier du Taaone, Papeete, French Polynesia.
² Service de Génétique, Institut Curie, Paris, France.
³ Service d'anatomopathologie, Centre Hospitalier Universitaire de Nancy, Vandoeuvre-les-Nancy, France.
⁴ Université de Paris, Sciences et Lettres, Paris, France.
⁵ INSERM U830, Institut Curie, Paris, France.
⁶ Université de Paris, Paris, France.
⁷ Département de Néphrologie et Transplantation d'Organes, Centre National de Référence des Maladies Rénales Rares, Centre Hospitalier Universitaire de Toulouse, Toulouse, France.
⁸ Institut National de la Santé et de la Recherche Médicale, UMR 1297, Institut des Maladies Métaboliques et Cardiovasculaires, Toulouse, France.
⁹ Université Paul Sabatier-Toulouse-3, Toulouse, France.

PMID: 34386670
PMCID: PMC8344115
DOI: 10.1016/j.ekir.2021.05.010

Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands

Lorraine Gueguen et al. Kidney Int Rep. 2021.

. 2021 May 21;6(8):2207-2211.

doi: 10.1016/j.ekir.2021.05.010. eCollection 2021 Aug.

Authors

Affiliations

¹ Service de Néphrologie, Centre Hospitalier du Taaone, Papeete, French Polynesia.
² Service de Génétique, Institut Curie, Paris, France.
³ Service d'anatomopathologie, Centre Hospitalier Universitaire de Nancy, Vandoeuvre-les-Nancy, France.
⁴ Université de Paris, Sciences et Lettres, Paris, France.
⁵ INSERM U830, Institut Curie, Paris, France.
⁶ Université de Paris, Paris, France.
⁷ Département de Néphrologie et Transplantation d'Organes, Centre National de Référence des Maladies Rénales Rares, Centre Hospitalier Universitaire de Toulouse, Toulouse, France.
⁸ Institut National de la Santé et de la Recherche Médicale, UMR 1297, Institut des Maladies Métaboliques et Cardiovasculaires, Toulouse, France.
⁹ Université Paul Sabatier-Toulouse-3, Toulouse, France.

PMID: 34386670
PMCID: PMC8344115
DOI: 10.1016/j.ekir.2021.05.010

No abstract available

Keywords: FAN1; South Pacific Islands; bronchiectasis; karyomegaly; nephropathy.

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Figures

**Figure 1**
Pathologic changes and imaging. Upper left and right. Chest computed tomographic scan: bronchiectasis. Lower left and right: enlarged nuclei of tubular cells and interstitial fibrosis (Masson Trichrome staining, original magnification ×24).

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Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands

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Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands

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