Table 4 of Sharma, Mol Vis 2008; 14:1856-1864.

Table 4. Clinical features of NHS patients tested.

Patient Ocular features Dental features MR FD Mutation Exon
101 Congenital Cataract Microcornea Microphthalmia Nystagmus Strabismus - No No K1198fs 6
102 Congenital Cataract - - - None
104 Congenital Cataract Unusual dentition Yes Yes None
105 Congenital Cataract Diastema Yes Large ears R879X 6
120 Congenital Cataract Microphthalmia Glaucoma Diastema Supernumerary Screwdriver-blade shape No Yes R373X 5
122 Congenital Cataract Microphthalmia Strabismus Supernumerary Abnormal shape Develop-mental delay Long thin face I1302fs 6
124 Congenital Cataract Supernumerary maxillary incisors Yes Large ears None
127 Congenital Cataract Microphthalmia Diastema No Prominent ears P264fs 3
134 Congenital Cataract Microphthalmia - - - None
135 Congenital Cataract Microcornea Supernumerary maxillary incisors No High nasal bridge R248X 3

The mutation identified in NHS is shown at the protein level. Missing information is indicated by “-”. MR=mental retardation, FD=facial dysmorphism, fs=frameshift mutation, K=lysine, R=arginine, I=isoleucine, P=proline, X=stop codon.

Sharma, Mol Vis 2008; 14:1856-1864. http://www.molvis.org/molvis/v14/a220

©2008 Molecular Vision http://www.molvis.org/molvis/

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