CDON

Gene name: cell adhesion associated, oncogene regulated
OMIM ID: 608707
Chromosome location: 11q24.2

Mutations

Disease/Phenotype	Pituitary stalk interruption syndrome
Reference transcript	NM_001243597.1
DNA Change	2764T>C
A.A. Change	Glu922Ter
Exon/Intron
Mutation Type	substitution
Reference	Bashamboo A, Bignon-Topalovic J, Rouba H, McElreavey K, Brauner R. A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome. J Clin Endocrinol Metab. 2016 Jan;101(1):12-5. doi: 10.1210/jc.2015-2995. Epub 2015 Nov 3.

---