Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity

Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity

Nail-patella syndrome (NPS) is characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma and can be caused by haploinsufficiency of LMX1B; however, not all patients harbor pathogenic LMX1B mutations. Here the authors show that loss-of-function variations in u...

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Main Authors: Endika Haro, Florence Petit, Charmaine U. Pira, Conor D. Spady, Sara Lucas-Toca, Lauren I. Yorozuya, Austin L. Gray, Fabienne Escande, Anne-Sophie Jourdain, Andy Nguyen, Florence Fellmann, Jean-Marc Good, Christine Francannet, Sylvie Manouvrier-Hanu, Marian A. Ros, Kerby C. Oberg
Format: Article
Language:English
Published: Nature Publishing Group 2021-09-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-021-25844-5
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spelling doaj-c839defb640841778feac8543d2361dc2021-09-26T11:44:53ZengNature Publishing GroupNature Communications2041-17232021-09-0112111110.1038/s41467-021-25844-5Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicityEndika Haro0Florence Petit1Charmaine U. Pira2Conor D. Spady3Sara Lucas-Toca4Lauren I. Yorozuya5Austin L. Gray6Fabienne Escande7Anne-Sophie Jourdain8Andy Nguyen9Florence Fellmann10Jean-Marc Good11Christine Francannet12Sylvie Manouvrier-Hanu13Marian A. Ros14Kerby C. Oberg15Department of Pathology and Human Anatomy, Loma Linda University School of MedicineClinique de Génétique, CHU LilleDepartment of Pathology and Human Anatomy, Loma Linda University School of MedicineDepartment of Pathology and Human Anatomy, Loma Linda University School of MedicineInstituto de Biomedicina y Biotecnología de Cantabria, CSIC–SODERCAN-Universidad de CantabriaDepartment of Pathology and Human Anatomy, Loma Linda University School of MedicineDepartment of Pathology and Human Anatomy, Loma Linda University School of MedicineEA7364 RADEME, Université de LilleEA7364 RADEME, Université de LilleDepartment of Pathology and Human Anatomy, Loma Linda University School of MedicineService de Médecine Génétique, Centre Hospitalier Universitaire VaudoisService de Médecine Génétique, Centre Hospitalier Universitaire VaudoisService de génétique médicale, CHU EstaingClinique de Génétique, CHU LilleInstituto de Biomedicina y Biotecnología de Cantabria, CSIC–SODERCAN-Universidad de CantabriaDepartment of Pathology and Human Anatomy, Loma Linda University School of MedicineNail-patella syndrome (NPS) is characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma and can be caused by haploinsufficiency of LMX1B; however, not all patients harbor pathogenic LMX1B mutations. Here the authors show that loss-of-function variations in upstream enhancer sequences are responsible for a limb specific form of human NPS.https://doi.org/10.1038/s41467-021-25844-5
collection DOAJ
language English
format Article
sources DOAJ
author Endika Haro
Florence Petit
Charmaine U. Pira
Conor D. Spady
Sara Lucas-Toca
Lauren I. Yorozuya
Austin L. Gray
Fabienne Escande
Anne-Sophie Jourdain
Andy Nguyen
Florence Fellmann
Jean-Marc Good
Christine Francannet
Sylvie Manouvrier-Hanu
Marian A. Ros
Kerby C. Oberg
spellingShingle Endika Haro
Florence Petit
Charmaine U. Pira
Conor D. Spady
Sara Lucas-Toca
Lauren I. Yorozuya
Austin L. Gray
Fabienne Escande
Anne-Sophie Jourdain
Andy Nguyen
Florence Fellmann
Jean-Marc Good
Christine Francannet
Sylvie Manouvrier-Hanu
Marian A. Ros
Kerby C. Oberg
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
Nature Communications
author_facet Endika Haro
Florence Petit
Charmaine U. Pira
Conor D. Spady
Sara Lucas-Toca
Lauren I. Yorozuya
Austin L. Gray
Fabienne Escande
Anne-Sophie Jourdain
Andy Nguyen
Florence Fellmann
Jean-Marc Good
Christine Francannet
Sylvie Manouvrier-Hanu
Marian A. Ros
Kerby C. Oberg
author_sort Endika Haro
title Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
title_short Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
title_full Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
title_fullStr Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
title_full_unstemmed Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
title_sort identification of limb-specific lmx1b auto-regulatory modules with nail-patella syndrome pathogenicity
publisher Nature Publishing Group
series Nature Communications
issn 2041-1723
publishDate 2021-09-01
description Nail-patella syndrome (NPS) is characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma and can be caused by haploinsufficiency of LMX1B; however, not all patients harbor pathogenic LMX1B mutations. Here the authors show that loss-of-function variations in upstream enhancer sequences are responsible for a limb specific form of human NPS.
url https://doi.org/10.1038/s41467-021-25844-5
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