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Article

106 Citations

4,714 Views

13 Pages

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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Article

14 Citations

7,172 Views

11 Pages

Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations

Jiachen Lin,
Lina Zhao,
Sen Zhao,
Shengjie Li and ,
Zhengye Zhao,
Zefu Chen,
Zhifa Zheng,
Jiashen Shao,
Yuchen Niu and
Nan Wu
+ 8 authors+ 3 authors

Genes2021, 12(10), 1615;https://doi.org/10.3390/genes12101615

14 October 2021

Genetic perturbations in nicotinamide adenine dinucleotide de novo (NAD) synthesis pathway predispose individuals to congenital birth defects. The NADSYN1 encodes the final enzyme in the de novo NAD synthesis pathway and, therefore, plays an importan...

(This article belongs to the Section Human Genomics and Genetic Diseases)

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