Mutation data of the CYP1B1 gene in primary congenital glaucoma

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case #/Frequency Consequence Disease Symptom Onset Hereditary pattern*3 Ethnic Origin Reference
FD 1064 13   1064del13bp 2 13-bp del at ntd 1064 -> frameshift at codon 355 primary congenital glaucoma(Buphthalmos) 1*2 early AR Turkish Stoilov,I.et al.(1997)Hum.molec.Genet.6,641.
FI 868 0 C 868insC 2 1-bp ins C at ntd 868 -> frameshift at codon 290 primary congenital glaucoma(Buphthalmos) 1 early AR Turkish Stoilov,I.et al.(1997)Hum.molec.Genet.6,641.
FD 1043+300 intron2 to exon3   DelIVS2-Ex3 1 frameshift primary congenital glaucoma(Buphthalmos) 1 early AR Turkish Stoilov,I.et al.(1997)Hum.molec.Genet.6,641.
P 1294 1 C 432V/L 64.30% GTG/CTG at ntd 1294 -> Val/Leu at codon 432 - - - - Turkish, Caucasians Stoilov,I.et al.(1997)Hum.molec.Genet.6,641.
M 182 1 A G61E 37 GGA-GAA at ntd 182 -> Gly-Glu at codon 61 primary congenital glaucoma(Buphthalmos) 1 early AR Saudi Arabian Bejjani,B.et al.(1998)Am.J.Hum.Genet.62,325.
M 1120 1 A D374N 3 GAC-AAC at ntd 1120 -> Asp-Asn at codon 374 primary congenital glaucoma(Buphthalmos) 1 early AR Saudi Arabian Bejjani,B.et al.(1998)Am.J.Hum.Genet.62,325.
M 1405 1 T R469W 3 CGG-TGG at ntd 1405 -> Arg-Trp at codon 469 primary congenital glaucoma(Buphthalmos) 1 early AR Saudi Arabian Bejjani,B.et al.(1998)Am.J.Hum.Genet.62,325.

*1 Abbreviations are as follows: M, Missense; FI, Frameshift Insertion; FD, Frameshift Deletion; P, Polymorphism.
*2 the typical glaucomatous atrophy of the optic nerve that ultimately leads to progressive visual field loss and total blindness
*3 Abbreviations are as follows: AR, Autosomal Recessive.







Last updated 30 March 1999