Molecular and Genetic Medicine

CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain

Publications

• Case Report   
  Donnai� Barrow Syndrome in Two Sisters with a Homozygous LRP2 Mutation and Renal Dysfunction. Integral Management of the Disease with Review of the Literature.
  Author(s): Peces R*, Santos-Simarro F, Palomares-Bralo M, Peces C, Rufo V, Solís-López M, Mena R, Selgas R, Lapunzina P and Nevado J*
  
  Objectives: Donnai–Barrow syndrome (DBS) or facio oculo acoustic renal (FOAR) syndrome, DBS/FOAR (MIM# 227290) is caused by mutations in the LRP2 gene (MIM# 600073). Disease severity and penetrance vary greatly among patients carrying the same pathogenic variant(s) and single-gene variants often do not reliably predict the disease phenotypes. Background: The LRP2 gene located on chromosome 2q31.1 band encodes megalin, a multi-ligand endocytic receptor. There are less than 50 cases reported worldwide. Cases presentation: We report two Ecuadorian sisters born from consanguineous parents carrying a homozygous LRP2 mutation in intron 44 NM_004525.2:c.8452+1G>A. Both individuals, aged 23 and 20 years respectively, presented classical clinical features of the DBS/FOAR including craniofacial dysmorphology, hyperteloris.. Read More»
  DOI: 10.37421/jmgm.2020.14.451

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