Mutation data of the TGFBI gene in corneal dystrophy

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case #/Frequency Consequence Disease Symptom Hereditary pattern*2 Onset Ethnic Origin Reference comment
M 371 1 A R124H 13 CGC-CAC-->Arg-His at codon 124 corneal dystrophy of Avellino type; ACD corneal erosions and visual impairment due to granular and fibrillar deposits AD early Japanese Mashima, Y. et al. (1997) Am. J. Hum. Genet. 61, 1448. -
M 371 1 A R124H 6 CGC-CAC-->Arg-His at codon 124 corneal dystrophy of Avellino type; ACD corneal erosions and visual impairment due to granular and fibrillar deposits AD early Japanese Mashima, Y. et al. (1997) Am. J. Hum. Genet. 61, 1448. homozygous; rapid progression of clinical manifestation and visual deterioration at an early age and required keratoplasty in the 1st decade of life
M 370 1 T R124C 6 CGC-TGC-->Arg-Cys at codon 124 corneal dystrophy of lattice type 1; CDL1 corneal erosions and visual impairment due to fibrillar amyloid deposits AD early Japanese Mashima, Y. et al. (1997) Am. J. Hum. Genet. 61, 1448. -
M 1663 1 T R555W 1 CGG-TGG-->Arg-Trp at codon 555 granular corneal dystrophy of Groenouw type 1; CDGG1 corneal erosions and visual impairment due to white granular deposits AD early Caucasian Munier, F. L. et al. (1997) Nature Genet. 15, 247. -
M 371 1 A R124H 2 CGC-CAC-->Arg-His at codon 124 corneal dystrophy of Avellino type; ACD corneal erosions and visual impairment due to granular and fibrillar deposits AD early Caucasian Munier, F. L. et al. (1997) Nature Genet. 15, 247. -
M 1664 1 A R555Q 1 CGG-CAG-->Arg-Gln at codon 555 Reis-Bucklers' corneal dystrophy; CDRB corneal erosions and visual impairment due to dystrophy of Bowman's layer AD early Caucasian Munier, F. L. et al. (1997) Nature Genet. 15, 247. -
M 370 1 T R124C 2 CGC-TGC-->Arg-Cys at codon 124 corneal dystrophy of lattice type 1; CDL1 corneal erosions and visual impairment due to fibrillar amyloid deposits AD early Caucasian Munier, F. L. et al. (1997) Nature Genet. 15, 247. -
M 1501 1 A P501T 4 CCA-ACA-->Pro-Thr at codon 501 corneal dystrophy type IIIA; LCDIIIA late-developing thick, ropy lattice lines in the corneal stroma sporadic early Japanese Yamamoto, S. et al. (1998) Am. J. Hum. Genet. 62, 719. -
M 1501 1 A P501T 3 CCA-ACA-->Pro-Thr at codon 501 corneal dystrophy type IIIA; LCDIIIA late-developing thick, ropy lattice lines in the corneal stroma AD early Japanese Yamamoto, S. et al. (1998) Am. J. Hum. Genet. 62, 719. -
P 1416 1 T 1416C/T 22.2% polymorphism at ntd 1416 (L/L472) - - - - Japanese Tsujikawa, M. et al. (1998) J. Hum. Genet. 43, 214. -
P 1439 1 T 1439C/T 1 polymorphism at ntd 1439 (L/L473) Gelatinous droplike dystrophy; GDLD - - - Japanese Tsujikawa, M. et al. (1998) J. Hum. Genet. 43, 214. -
P 1411-3 1 T IVS10-3C/T 4.6% polymorphism at IVS10-3 (L/L474) - - - - Japanese Tsujikawa, M. et al. (1998) J. Hum. Genet. 43, 214. -

*1 Abbreviations are as follows: M, Missense; P, Polymorphism.
*2 Abbreviations are as follows: AD, Autosomal Dominant.







Last updated 31 March 1999