High Myopia with Sensorineural Deafness (SLITRK6)

A(z) condition ismertetése

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.

A vizsgált betegség

Miért a teljes genom szekvenálás

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.

Hivatkozások

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 Deafness and Myopia Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.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

További otolaryngological conditions

• Björnstad SyndromeBCS1L
• Branchio-Oto-Renal Spectrum DisorderEYA1, SIX1, SIX5
• Burn-McKeown SyndromeTXNL4A
• Chudley-McCullough SyndromeGPSM2
• Deafness-Dystonia-Optic Neuronopathy SyndromeTIMM8A
• Hearing Loss and DeafnessACTG1, AFG2B, AIFM1, ATP11A
• Johanson-Blizzard SyndromeUBR1
• Labyrinthine Aplasia, Microtia and Microdontia (LAMM)FGF3
• Treacher Collins SyndromePOLR1B, POLR1C, POLR1D, TCOF1
• Usher SyndromeADGRV1, ARSG, CDH23, CLRN1