Özet:

Waardenburg Syndrome (WS) is a disease first identified by PJ Waardenburg, which is caused by the physical absence of melanocytes in the stria vascularis in the skin, hair, eye or cornea. It is characterized by a combination of pigmentation abnormalities, including polio (white scratch in the hair), hypopigmented macules, vibrant blue eyes or heterocromic iris and sensory-inoral hearing loss. There are six genetic mutations in this syndrome. These are PAX3 (Paired box 3 transcription factor) genes, MITF (Microftalmi-related transcription factor) genes, EDN3 (Endotelin 3) genes, EDNRB (Endotelin receptor type B) genes, SOX10 (Sry bOX10 transcription factor) genes and SNAI2 (Snail homologue 2) genes. It is a very rare disease, with a prevalence of 1/42000. It is seen in equal proportions in men and women. In this article, the PAX3 gene exon 2 identified the pathogenic variance of c.232G>A(p.Val78Met) and presented a 2 month rare phenomenon diagnosed with Waardenburg syndrome.

Anahtar Kelimeler: