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OTOF

Synonyms
AUNB1, DFNB6, DFNB9, FER1L2, NSRD9
External resources
Summary
Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
117
Likely pathogenic
22
VUS
10,477
Likely benign
3,796
Benign
8,320

Patient Phenotypes

Proportions of phenotypes among 122 patients carrying pathogenic or likely pathogenic variants on OTOF gene are displayed below. The following symptoms were found in patients with a variant in OTOF. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
48.4%
Abnormality of the musculoskeletal system
24.6%
Abnormality of the eye
23.8%
Abnormality of head or neck
22.1%
Abnormality of the ear
18.9%
Growth abnormality
13.1%
Abnormality of the cardiovascular system
12.3%
Abnormality of the genitourinary system
9%
Abnormality of limbs
7.4%
Abnormality of the digestive system
7.4%
Abnormality of metabolism homeostasis
5.7%
Abnormality of the endocrine system
5.7%
Abnormality of the integument
5.7%
Abnormality of blood and blood forming tissues
4.1%
Abnormality of the immune system
4.1%
Abnormality of prenatal development or birth
2.5%
Abnormality of the respiratory system
2.5%
Neoplasm
2.5%
Abnormal cellular phenotype
0.8%
Constitutional symptom
0.8%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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