Nature Communications (Sep 2021)

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

  • 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

DOI
https://doi.org/10.1038/s41467-021-25844-5
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 11

Abstract

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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.