Syndromic sensorineural hearing loss [161 genes]

Sensorineural hearing loss can be of genetic origin in up to 50% of cases. These genetic entities can exclusively cause deafness or be part of syndromes with other non-auditory alterations. This service is aimed at identifying entities included within this second group. Some of the most frequent syndromes associated with sensorineural deafness and considered in the panel are, among others:

• Waardenburg syndrome.
• Branchio-oto-renal syndrome.
• Usher syndrome (types 1, 2, 3).
• Pendred syndrome.
• Jervell and Lange-Nielsen syndrome.
• CHARGE syndrome.

• Waardenburg syndrome: 1-9 /100,000 (ORPHA:3440).
• Branchio-oto-renal syndrome: 1/40,000 (ORPHA:107).
• Usher syndrome: ORPHA: 1/30,000 (ORPHA:886).
• Pendred syndrome: 1-9 /100,000 (ORPHA:705).
• Jervell and Lange-Nielsen syndrome: 1-9 /1,000,000 (ORPHA:90647).
• CHARGE syndrome: 1/12,000 – 15,000 (ORPHA:138).

Recommended service when there is some pathological phenotypic data in addition to hearing loss. If sensorineural deafness has accompanying physical signs detected by physical examination or complementary tests are evident, it would be advisable to request this service. The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention of associated comorbidities in syndromic patients.

Service is indicated when sensorineural deafness is diagnosed and a genetic origin is suspected due to additional phenotypic manifestations.