SNP Shot: Genomic Insights

Tietz syndrome is a genetic condition distinguished by significant hearing impairment present at birth, along with unusually pale skin and light-colored hair. The hearing loss, known as sensorineural hearing loss, results from inner ear malformations and is congenital. While individuals with Tietz syndrome are typically born with white hair and very fair skin, their hair may naturally darken to blond or red shades as they age. The skin of those affected is highly susceptible to sunburn and might develop a slight tan or reddish freckles even with minimal sun exposure. However, their skin and hair typically remain lighter compared to other family members.

The eyes are also affected by Tietz syndrome. People with this condition usually have blue irises and exhibit a lack of normal pigment in the retinal pigment epithelial cells, which are specialized eye cells that nourish the retina (the light- and color-sensing part of the eye). These retinal pigment epithelium alterations are usually only detectable through an eye exam, and it's currently uncertain if they affect visual acuity.

Inheritance:

Tietz syndrome follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene is necessary in each cell to cause the syndrome. In the majority of cases, an individual with Tietz syndrome has inherited the condition from one affected parent.