Genomic coordinate (human 10:29,300,001).
Cytoband (human 10p11.23).
Here I present: “Autosomal-Recessive Deafness-33″, Victor McKusick, Mendelian Inheritance in Man’, 1966. (DFNB33) icd10=H91.9
INTRODUCTION.
Autosomal-Recessive Deafness-33 ( AR Deafness-33 ) is one of the genetically defined forms of nonsyndromic hereditary hearing loss.
“Autosomal-recessive” means that both copies of the causal gene must be altered for hearing loss to occur; parents are typically unaffected carriers.
Core Features.
Inheritance: Autosomal recessive.
Phenotype: Isolated hearing loss.
Onset: Usually congenital or early childhood
Severity: Often moderate to severe, frequently bilateral and symmetric
Progression: May be stable or slowly progressive, depending on the specific mutation
Biology (high-level).
AR Deafness-33 reflects disruption of inner-ear (cochlear) cellular physiology, particularly processes required for mechanotransduction, ion homeostasis, or structural integrity of hair cells.
Diagnosis
Audiologic testing: ABR, OAE, pure-tone audiometry.
Genetic testing: Targeted deafness panels or exome sequencing to identify the causal gene and confirm recessive inheritance
Family studies: Helpful for carrier confirmation and counseling
Management.
Early intervention is key
Hearing aids or cochlear implantation (depending on severity and cochlear integrity).
Speech and language therapy. Genetic counseling for families (25% recurrence risk for each pregnancy when both parents are carriers)
Broader Context.
AR Deafness-33 is one of many DFNB (autosomal-recessive nonsyndromic deafness) entities that illustrate how a limited set of inner-ear physiological pathways can give rise to many clinically distinct genetic diagnoses.
There is evidence that autosomal-recessive deafness-33 is caused by mutation in the DFNB33 gene encoded on genomic coordinate 10:29,300,001 and cytoband 10p11.23 in humans.
