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 |