IDC10 Code = H90.5
Genomic coordinate (human 13:20,187,470 GJB2 & 13:20,221,962 GJB6).
Cytoband (human 13q12.11 GJB2 & GJB6).
OMIM’ genes @ 13q12.11 = 3 genes.
ClinVar = 644 GJB2 variants & 327 GJB6 variants reported.
PANTHER Classification of “connexins 26 & 30” is PTHR11984:SF46 & SF23.
Here I present: “13q12.11 Autosomal Deafness”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (GJB2/6)
INTRODUCTION.
The image displays a 3D scientific visualization representing catastrophe theory’ applied to genetic deafness linked to the DFNB1 locus on chromosome 13q12.11.
🧬 Breakdown of the Visualization
The Core Disease Mechanism: The graph maps how mutations in two critical gap junction protein genes—Connexin 26 (GJB2) and Connexin 30 (GJB6)—interact to disrupt the flow of potassium ions (Cochlear Gap Junction Flux). This disruption is a primary cause of autosomal recessive nonsyndromic hearing loss.
The 3D Surface (Cusp Catastrophe): The shape shown is a classic cusp catastrophe surface from mathematical bifurcation theory. It models how continuous, gradual changes in independent variables (the accumulation or types of Connexin 26 and Connexin 30 mutations along the base axes) can lead to a sudden, discontinuous drop or shift in a dependent variable (the collapse of Cochlear Gap Junction Flux).
DFNB1 Cusp Point: The labeled “Cusp Point” represents the critical threshold or singularity. At this exact geometric fold, a minor genetic variation can abruptly plunge the system from a state of normal cochlear function down to a state of severe genetic deafness.
The Numerical Axes: The numbers at the bottom arrows (20,187,470 and 20,221,962) correspond to the specific base-pair genomic coordinates on chromosome 13 where these genes are located.
