Tietz syndrome

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Tietz syndrome
Other namesHypopigmentation-deafness syndrome
Autosomal dominant - en.svg
Tietz syndrome has an autosomal dominant pattern of inheritance.
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Tietz syndrome, also called Tietz albinism-deafness syndrome or albinism and deafness of Tietz, [1] is an autosomal dominant [2] congenital disorder characterized by deafness and leucism. [3] It is caused by a mutation in the microphthalmia-associated transcription factor (MITF) gene. [2] [4] Tietz syndrome was first described in 1963 by Walter Tietz (19272003) a German Physician working in California. [5]

Autosome Any chromosome other than a sex chromosome.

An autosome is a chromosome that is not an allosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome pairs which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA.

Dominance (genetics) relationship between alleles of a gene, in which the phenotypic effect of one allele masks the phenotypic effect (phenotype) of another allele at the same locus

Dominance, in genetics, is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked, and these show a very different inheritance and presentation pattern to autosomal traits which depends on the sex of the individual. Additionally, there are other forms of dominance such as incomplete dominance, in which a gene variant has a partial effect compared to when it is present on both chromosomes, and co-dominance, in which different variants on each chromosome both show their associated traits.


Leucism is a condition in which there is partial loss of pigmentation in an animal—which causes white, pale, or patchy coloration of the skin, hair, feathers, scales or cuticle, but not the eyes. It is occasionally spelled leukism. Unlike albinism, it can cause a reduction in multiple types of pigment, not just melanin.



Tietz syndrome is characterized by profound hearing loss from birth, white hair and pale skin (hair color may darken over time to blond or red).

The hearing loss is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. Individuals with Tietz syndrome often have skin and hair color that is lighter than those of other family members.

Sensorineural hearing loss A type of Hearing Loss

Sudden Sensorineural Hearing Loss (SSHL) or Sensorineural Hearing Loss (SNHL) is a type of hearing loss in which the root cause lies in the inner ear or sensory organ or the vestibulocochlear nerve. SNHL accounts for about 90% of reported hearing loss. SNHL is generally permanent and can be mild, moderate, severe, profound, or total. Various other descriptors can be used depending on the shape of the audiogram, such as high frequency, low frequency, U-shaped, notched, peaked, or flat.

Tietz syndrome also affects the eyes. The iris in affected individuals is blue, and specialized cells in the eye called retinal pigment epithelial cells lack their normal pigment. The changes to these cells are generally detectable only by an eye examination; it is unclear whether the changes affect vision. [6]

Retinal pigment epithelium

The pigmented layer of retina or retinal pigment epithelium (RPE) is the pigmented cell layer just outside the neurosensory retina that nourishes retinal visual cells, and is firmly attached to the underlying choroid and overlying retinal visual cells.


Tietz syndrome is caused by mutations in the MITF gene, located on human chromosome 3p14.1-p12.3. [2] [4] [7] It is inherited in an autosomal dominant manner. [2] This indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 3 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.[ citation needed ]

Microphthalmia-associated transcription factor protein-coding gene in the species Homo sapiens

Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the MITF gene.

Chromosome DNA molecule containing genetic material of a cell

A chromosome is a deoxyribonucleic acid (DNA) molecule with part or all of the genetic material (genome) of an organism. Most eukaryotic chromosomes include packaging proteins which, aided by chaperone proteins, bind to and condense the DNA molecule to prevent it from becoming an unmanageable tangle.


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  1. Online Mendelian Inheritance in Man (OMIM) 103500
  2. 1 2 3 4 Smith SD, Kelley PM, Kenyon JB, Hoover D (Jun 2000). "Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF" (Free full text). J. Med. Genet. 37 (6): 446–448. doi:10.1136/jmg.37.6.446. PMC   1734605 . PMID   10851256.
  3. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 925. ISBN   978-1-4160-2999-1.
  4. 1 2 Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM (Jan 1998). "Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome)". Clin. Dysmorphol. 7 (1): 17–20. doi:10.1097/00019605-199801000-00003. PMID   9546825.
  5. Tietz W (Sep 1963). "A Syndrome of Deaf-Mutism Associated with Albinism Showing Dominant Autosomal Inheritance". Am. J. Hum. Genet. 15 (3): 259–264. PMC   1932384 . PMID   13985019.
  6. "Tietz syndrome". Genetics Home Reference. 2016-02-22. Retrieved 2016-03-01.
  7. Online Mendelian Inheritance in Man (OMIM) 156845
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