Table 1. .
Summary of the Clinical Data Correlated with the Identified NOG Mutations[Note]
Incidence of Phenotype |
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BDB |
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Mutation | Milda | Intermediateb | Severec | Distal SYM | Carpal Coalition | Shortened MC Id | Cutaneous Syndactyly |
P35A | 2/12 | 10/12 | 8/8 | 8/8 | 8/8 | ||
P35S | 3/6 | 3/6 | 5/5e | 5/5 | 4/6 | ||
A36P | 4/4 | 2/2 | 0/2 | 0/4 | |||
E48K | 2/4 | 2/4 | + | 2/2 | 2/2 | 0/4 | |
R167G | 2/2 | 1/2f | 0/2 | 0/2 | |||
P187S | 3/6 | 3/6 | + | 2/2 | 1/2g | 6/6 |
Note.— All subjects had proximal SYM. Each hand of the patients was counted separately. Radiographs were not available for all affected individuals. For each of the listed features, the observed phenotypes refer to the total number of available data (as indicated after the slash).
Distal phalanges and nails present, but hypoplastic in fingers II–V.
Absent distal and sometimes middle phalanges of fingers IV and/or V (more affected by BDB than are fingers II and III).
Absent distal (and middle) phalanges of fingers II–V.
MC I=metacarpal bone I.
Two of five are x-rays of a 6-mo-old child; both hands showed an accelerated carpal bone age of ∼2.5 years.
In x-rays of a newborn, both hands showed an accelerated carpal bone age of ∼6 mo.
Additionally shortened MC IV and V.