“TIETZ Albinism-Deafness Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966. 蒂茨综合症。(TADS).

Here I present: “TIETZ Albinism-Deafness Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 蒂茨综合症。(TADS).

INTRODUCTION.

TIETZ Albinism-Deafness Syndrome (TADS) is an autosomal dominant congenital disorder characterized by deafness and leucism.  It is caused by a mutation in the microphthalmia-associated transcription factor (MITF) gene.  TIETZ syndrome (TADS) was first described in 1963 by physician Walter TIETZ (1927–2003).

Leucism is a wide variety of conditions that result in partial loss of pigmentation  causing white, pale, or patchy coloration of the skin, hair, or cuticles, but not the eyes. Some other genetic conditions besides (TADS) TIETZ syndrome that result in a “leucistic” appearance include piebaldism, Waardenburg syndrome, vitiligo, Chédiak–Higashi syndrome, flavism, isabellinism, xanthochromism, axanthism, amelanism, and melanophilin mutations.  

There is evidence that Tietz albinism-deafness syndrome (TADS) is caused by heterozygous mutation in the microphthalmia-associated transcription factor (MITF) gene on cytogenetic location  3p13 and genomic coordinates 3:69,739,464-69,968,332. The screenshot of the MITF gene 228,869 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes MITF in the 3p13 cytogenetic location are listed BENEATH.