Usher syndrome [14 genes]

Usher syndrome is a rare genetic disease that affects both hearing and vision. It causes deafness or progressive hearing loss and retinitis pigmentosa (RP) at the ocular level. This disease would be responsible for approximately half of the cases of deafblindness in those under age 65.

Clinical heterogeneity is wide, but three main types of the disease are established:

  • Usher syndrome type I: characterized by profound congenital bilateral sensorineural deafness, absence of vestibular function, and prepubertal onset of RP.
  • Usher syndrome type II: congenital deafness is moderate-severe and vestibular function is normal. The appearance of RP usually occurs at the end of the second decade or the beginning of the third.
  • Usher syndrome type III: deafness is progressive and postlingual, vestibular dysfunction is variable, and progressive RP has a variable age of onset.

The incidence of the disease has been calculated in different human populations and could be between 1 in 6,000 – 22,000 newborns.

It is recommended to request the Usher syndrome service when this disease is specifically suspected, based on the clinical signs evidenced.

Early diagnosis of the disease allows timely follow-up to be initiated to evaluate auditory and visual function, with the main intention of establishing the best auditory therapy for the patient as well as early detecting possible ocular complications.

The indication for the Usher syndrome service is limited to the presence of a high clinical suspicion of the disease.

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Usher syndrome

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Technique: Exome

Turnaround time (TAT):

Ref. S-202313093

Usher syndrome: View panel

Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes related to Usher syndrome based on current literature.

  • ADGRV1
  • ARSG
  • CDH23
  • CIB2
  • CLRN1
  • ESPN
  • HARS
  • MYO7A
  • PCDH15
  • PDZD7
  • USH1C
  • USH1G
  • USH2A
  • WHRN

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

Usher syndrome.

References

  1. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {276900}: {06/15/2023}: . World Wide Web URL: https://omim.org/.
  2. Koenekoop RK, Arriaga MA, Trzupek KM, et al. Usher Syndrome Type I. 1999 Dec 10 [Updated 2020 Oct 8]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1265/
  3. Koenekoop R, Arriaga M, Trzupek KM, et al. Usher Syndrome Type II. 1999 Dec 10 [Updated 2023 Mar 23]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1341/