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A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome

  • Isabel Schüle,
  • Urs Berger,
  • Uta Matysiak,
  • Gunda Ruzaike and ,
  • Brigitte Stiller,
  • Martin Pohl,
  • Ute Spiekerkoetter,
  • Ekkehart Lausch,
  • Sarah C. Grünert and
  • Miriam Schmidts
  • + 5 authors+ 0 author
Genes2021, 12(6), 879;https://doi.org/10.3390/genes12060879

7 June 2021

Vertebral, Cardiac, Renal and Limb Defect Syndrome (VCRL), is a very rare congenital malformation syndrome. Pathogenic variants in HAAO (3-Hydroxyanthranilate 3,4-dioxygenase), NADSYN1 (NAD+ Synthetase-1) and KYNU (Kynureninase) have been identified...

(This article belongs to the Special Issue Genetics of Rare Disease)
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