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autosomal recessive nonsyndromic hearing loss 48 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 48

MONDO:0012273

Also known as:CIB2 autosomal recessive nonsyndromic deafnessDFNB48autosomal recessive deafness 48

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene.

GeneticsAutosomal recessive · CIB2 (chr 15)

OnsetCONGENITAL

ResearchLimited published research (8 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Abnormal vestibular function and Profound sensorineural hearing impairment.

Organ System	Phenotype Count	Example Features
Ears	2	Abnormal vestibular function, Profound sensorineural hearing impairment

Age of onset: at birth.

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CIB2 encodes calcium and integrin binding family member 2 (187 aa). Calcium- and integrin-binding protein that plays a role in intracellular calcium homeostasis. Acts as an auxiliary subunit of the sensory mechanoelectrical transduction (MET) channel in hair cells. Highest expression in Testis (37.0 TPM) and Heart Atrial Appendage (29.8 TPM).

Autosomal recessive nonsyndromic hearing loss 48 is associated with mutations in the CIB2 gene on chromosome 15.

The CIB2 protein participates in Mechanoelectrical transduction (MET) channel transports cations into the cytosol of stereocilia of cochlear outer hair cell, Mechanoelectrical transduction (MET) channel transports cations from the extracellular region into the cytosol of stereocilia of inner hair cell, and Sensory processing of sound by inner hair cells of the cochlea pathways.

CIB2 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for CIB2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 48 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal recessive nonsyndromic hearing loss 48.

8 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 48. Research spans Clinical Trial Publication (25%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (25%).

Recent Publications

Ding Y (2025). [PMID: 40195191](https://pubmed.ncbi.nlm.nih.gov/40195191/). *Eur Arch Otorhinolaryngol*. [Diagnostic / Biomarker]
Zaw K (2025). [PMID: 40184886](https://pubmed.ncbi.nlm.nih.gov/40184886/). *Stem Cell Res*. [Basic Science / Preclinical]
Qi J (2025). [PMID: 40603731](https://pubmed.ncbi.nlm.nih.gov/40603731/). *Nat Med*. [Clinical Trial Publication]
Yalcouyé A (2025). [PMID: 39663698](https://pubmed.ncbi.nlm.nih.gov/39663698/). *HGG Adv*. [Basic Science / Preclinical]
Lv J (2024). [PMID: 38280389](https://pubmed.ncbi.nlm.nih.gov/38280389/). *Lancet*. [Clinical Trial Publication]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609439

GARD

Genetic and Rare Diseases Info Center

GARD:22612

Questions for Your Care Team

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autosomal recessive nonsyndromic hearing loss 48

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team