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WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype
  1. Eissa Faqeih1,
  2. Ranad Shaheen2,
  3. Fowzan S Alkuraya2,3
  1. 1Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia
  2. 2Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
  3. 3Department of Antomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
  1. Correspondence to Dr Fowzan S Alkuraya, Department of Genetics, King Faisal Specialist Hospital & Research Center, Takhassousi Rd, Riyadh 11211, Saudi Arabia;FAlKuraya{at}kfshrc.edu.sa

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To the Editor

We read with great interest the report by Fahiminiya and colleagues on the involvement of WNT1 in the pathogenesis of autosomal recessive osteogenesis imperfecta (OI).1 The identification of WNT1 as a novel OI gene by several groups was not guided by the knockout mouse phenotype but rather based on the use of next generation sequencing.1–3 However, the phenotype described for Wnt1−/− was that of early postnatal lethality due to severe central nervous system (CNS) involvement and Wnt1 expression was thought to be exclusive to the brain and testis.4 Curiously, none of the patients described by the three groups displayed significant CNS phenotype.

In this letter, we describe a novel WNT1 mutation in …

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