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Condition report · Otolaryngological

High Myopia with Sensorineural Deafness (SLITRK6)

Whole genome sequencing reads the SLITRK6 gene for inherited changes that cause high myopia, a condition of severe short-sightedness, together with sensorineural deafness present from birth or early childhood.

A condition report looks for rare variants known to cause the conditions it covers.

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About this condition

A rare inherited condition causing severe short-sightedness and hearing loss from early childhood. It is caused by changes in both copies of the SLITRK6 gene, which is needed for the development of the inner ear and the eye.

High myopia with sensorineural deafness is a rare inherited condition that affects both hearing and sight. Hearing loss is usually moderate to profound and present from birth or early childhood, and it can get worse over time. Severe short-sightedness, known as high myopia, develops in early childhood and can lead to other eye complications.

The condition is caused by changes in both copies of the SLITRK6 gene. SLITRK6 makes a protein found mainly in the inner ear and the eye. It helps nerve cells in the inner ear that carry sound signals to develop, and it influences how far the eyeball grows after birth, which affects whether a person is short-sighted.

Early hearing assessment guides the use of hearing aids and other devices, and cochlear implants may be considered for some people with severe hearing loss. Glasses or contact lenses correct the myopia, and regular eye checks look for complications. Parents are usually carriers, so carrier testing and genetic counselling are available to relatives.

The condition we analyse

High Myopia-Sensorineural Deafness Syndrome

Autosomal recessive

Caused by changes in both copies of SLITRK6, which helps nerve connections form in the inner ear and influences eye growth. It has been reported in various populations.

Signs and symptoms

Hearing loss, usually moderate to profound and present from birth or early childhood, with features of auditory neuropathy in some. Severe short-sightedness (high myopia) develops in early childhood. High myopia can also lead to other eye complications.

What a diagnosis changes

Early hearing assessment guides hearing aids or cochlear implants and communication support; glasses or contact lenses correct myopia, with regular eye checks for complications of high myopia. Parents are usually carriers, so carrier testing for relatives and genetic counselling are available.

Genes analysed

Also known as

deafness and myopia; deafness and myopia syndrome; DFNMYP

MONDO:0009082OMIM 221200Orphanet 363396MedGen 812605Sources: [1][3][4][5]

Why whole genome sequencing

This condition is recessive, so the cause found in one family can help relatives understand their own risk. Whole genome sequencing reads the SLITRK6 gene in one test.

Relatives can be offered carrier testing

Each sibling of an affected person has a 1 in 4 chance of being affected and a 1 in 2 chance of being a carrier with no symptoms. Once the SLITRK6 changes are known in a family, carrier testing and prenatal testing are possible.

Yearly hearing and eye checks

ENT and audiology checks are recommended at least once a year, with regular ophthalmology reviews to watch for complications of high myopia. Speech and language development is also monitored over time.

References

  1. Ordonez JL, Tekin M, 2015. Deafness and Myopia Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. GeneReviews
  2. SLITRK6 gene. MedlinePlus Genetics
  3. Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D et al., 2013. SLITRK6 mutations cause myopia and deafness in humans and mice. The Journal of clinical investigation
  4. Salime S, Riahi Z, Elrharchi S, Elkhattabi L, Charoute H, Nahili H et al., 2018. A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family. Gene
  5. Deafness and myopia syndrome. MedlinePlus Genetics

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