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Table 1 The mutation and clinical phenotypes of NOG

From: Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation

References Nucleotide alteration Annuo acid change Proximal interphala ngeal joint fusion of finger Proximal interphalangeal joint fusion of finger of toe Conductive deafness Cervical spine fusion Distal interphalangeal joint fusion of finger Unusual fecial appearance
[12] No report No report  + 
[13] No report No report  +   +  Strabismus
[14] c.551G > A p.C184Y +
[14] c386T > A p.L129X  +   + 
[15] c.450G > C p.W150C  +  +  +  +
[16] c.137T > C p.L46P  +  Bifid nasal tip
[17] c.559C > T p.P187S  +  + +  +
[6] C.449C > T p.R167C  +  + +
[18] C.391C > T p.Q131X + +  +  Full forehead, Hyperopia