Deafness, autosomal dominant 41

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA41
Number of Symptoms 4
OrphanetNr:
OMIM Id: 608224
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 families - PMID: 23345450; 24211385 [IBIS]
Inheritance: Autosomal dominant
- PMID: 23345450 [IBIS]
Age of onset: Adolescent
Adult
- PMID: 23345450 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

1
(HPO:0008619) Bilateral sensorineural hearing impairment 23345450; 24211385 IBIS 23 / 7739
2
(HPO:0000408) Progressive sensorineural hearing impairment 23345450 IBIS 28 / 7739
3
(HPO:0001730) Progressive hearing impairment 24211385; 23345450 IBIS 29 / 7739
4
(HPO:0000360) Tinnitus 23345450 IBIS 29 / 7739

Associated genes:

P2RX2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal dominant deafness-41 (DFNA41) is characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies ...
Clinical Description OMIM Blanton et al. (2002) reported a large Chinese family in which 30 members over 6 generations had nonsyndromic progressive sensorineural deafness involving all frequencies. The age at onset ranged from 12 to 20 years and was generally accompanied by ...
Molecular genetics OMIM In affected members of 2 unrelated Chinese families with autosomal dominant deafness-41, Yan et al. (2013) identified a heterozygous missense mutation in the P2RX2 gene (V60L; 600844.0001). The mutation in the first family (Blanton et al., 2002) was found ...