Syndromic causes of inner ear anomalies Syndrome Clinical features Gene involved Waardenburg Auditory-pigmentary syndrome PAX3, MITF, characterized by pigmentary SOX10, EDN3, abnormalities of the hair, SLUG including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; and congenital sensorineural hearing loss.

Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.

EDN3 and EDNRB might play important roles in the molecular mechanism of CC [23].

The endothelin 3 (EDN3) gene on GGA20 was reported as the causal gene for fibromelanosis (Fm) in black Silkie chicken (Dorshorst et al., 2010; 2011).

[15.] R Gath, A Goessling, et al, Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease, Gut: 2001, 48:671-675.

Using previously described primers and conditions (13), we screened all exons of the RET, GDNF, endothelin 3 (EDN3), and endothelin receptor B (EDNRB) genes, including intron/exon boundaries, for mutations and polymorphisms in all family members.

Scientists have identified and located four different genes for Waardenburg syndrome: PAX3, MITF, EDNRB, and EDN3. WS type 1 and 3 have been associated with mutations in the PAX3 gene; WS type 2 with the MITF gene; and WS type 4 with the EDNRB and EDN3 genes.

In addition to the RET gene, we investigated the gene coding for the glial cell-line-derived neurotrophic factor (RET ligand; GDNF), the EDNRB gene, and the gene coding for its ligand, endothelin 3 (EDN3).