Table 2 of
Bagiyeva, Mol Vis 2007;
13:1458-1468.Table 2 of
Bagiyeva, Mol Vis 2007;
13:1458-1468.
Table 2. Summary of nucleotide mutations, protein alteration, and intragenic single nucleotide polymorphisms profile for the primary congenital glaucoma patients in which mutated CYP1B1 alleles were detected
When reports on the family of the patients were available, consanguinity or nonconsanguinity is indicated. Age of the patient when clinically diagnosed with PCG is indicated when known. Age of onset is in most cases unknown as patients arrived at the hospital years after onset. All patients were diagnosed with trabeculodisgenesis. Patients were affected bilaterally, except when indicated by U (unilateral). Nucleotide mutations are named in the third column according to the genomic sequence U56438 and in the fourth column according to den Dunnen and Antonarakis [43], and based on the cDNA sequence NM_000104 The question mark indicates that the second mutated allele was unknown, otherwise the single allele was in homozygous state. The asterisk indicates alleles first reported in this study.
Family Diagnosis mutation Synonymous name alteration rs2617266 rs10012 rs1056827 rs1056836 rs1056837 rs1800440
------------------ --------- ---------- ------------------------ ------------ --------- ------- --------- --------- --------- ---------
PCG 1 1 year 8037dup10 c.1200_1209dupTCATGCCACC frameshift C C G G T A
(nonconsanguinity) (PCG)
PCG 2 3 months 3987G>A c.182G>A G61E C C G G T A
(PCG)
PCG 6 17 months 3987G>A/? c.182G>A /? G61E /? C C G G T A
(PCG) U
PCG 9 1 year 4154C>T/ c.349C>T/c.1405C>T R117W*/R469W C/T C/G G/T G/C T/C A
(consanguinity) (PCG) 8242C>T
PCG 10 - U 4668insC c.868insC frameshift C C G G T A
(consanguinity)
PCG 13 - 3987G>A c.182G>A G61E C C G G T A
(nonconsanguinity)
PCG 14 - 8242C>T/? c.1405C>T/? R469W/? C C G G/C T/C A/G
PCG 16 22 years 7940G>A/? c.1103G>A/? R368H/? C C G G/C T/C A
(nonconsanguinity) (PCG)
PCG 17 17 years 4490G>A/? c.685G>A /? E229K/? C/T C/G G/T G/C T/C A
(nonconsanguinity) (PCG)
PCG 20 15 years 3987G>A/? c.182G>A G61E/? C/T C/G G/T G T/C A
(nonconsanguinity) (PCG)
PCG 21 13 years 4791G>T c.986G>T G329V* C C G G T A
(nonconsanguinity) (PCG)
PCG 25 19 years 3987G>A c.182G>A G61E C C G G T A
(nonconsanguinity) (PCG)
PCG 32 - 8242C>T c.1405C>T R469W C C G G T A
PCG 34 1 year 7940G>A c.1103G>A/? R368H/? C C G G/C T/C A/G
(PCG)
PCG 35 - 8242C>T c.1405C>T R469W C C G G T A
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