Table 1.
Summary of causative and likely causative mutations identified in this study (both known and novel cataract genes).
| Patien t # |
Phenotypea | Race/ ethnicit y |
Mut ated Gene |
Referen ce sequenc e |
DNA effect |
Protein effect |
Cosegregatio n analysis (affected pedigrees) |
Allele freque ncy (contr ols)b |
PolyP hen/ SIFT predic tion |
Previo usly report ed |
|---|---|---|---|---|---|---|---|---|---|---|
| Known cataract genes | ||||||||||
| Patient 2 | Congenital cataract; glaucoma, microcornea | Caucasian (USA) | CRYBB1 | NM_001887.3 | c.286G>T | p.(Val96Phe) | Cosegregates: present in 6 affected, absent in 3 unaffected persons | 0/12,971 | Probably damaging/deleterious | No |
| Patient 3 | Congenital cataract; glaucoma | Caucasian (USA) | GJA8 | NM_005267.4 | c.200A>G | p.(Asp67Gly) | Cosegregates: present in 2 affected persons | 0/13,005 | Probably damaging/ deleterious | No |
| Patient 6 | Congenital nuclear cataract, hyperopia, strabismus | Caucasian (Ashkenazi Jewish, Israel) | CRYGD | NM_006891.3 | c.418C>T | p.(Arg140*) | Cosegregates: present in 3 affected, absent in 1 adult-onset and 2 unaffected persons | 0/12,971 | N/A (premature truncation) | Reviewed in Huang and He, 2010 |
| Patient 7 | Congenital cataract; glaucoma | Caucasian (Italy) | CRYBB3 | NM_004076.3 | c.581T>A | p.(Val194Glu) | Cosegregates with incomplete penetrance: present in 5 affected and 1 unaffected persons | 0/12,999 | Probably damaging/ deleterious | No |
| Patient 9 | Unilateral or bilateral congenital cataract | Caucasi an (USA) | CRYGC | NM_020989.3 | c.157_161 dupGC GGC | p.(Gln55 Valfs*50) | Cosegregates: present in 4 affected, absent in 5 unaffected persons | Not reported | N/A (frame shift) | Reviewed in Huang and He, 2010 |
| Patient 10 | Congenital cataract; strabismus | Caucasi an (USA) | MIP | NM_012064.3 | c.605G>A | p.(Trp2 02*) | Cosegregates: present in 3 affected, absent in 3 unaffected persons | 0/12,178 | N/A (premature truncation) | No |
| Patient 11 | Congenital cataract; pupil defects, glaucoma | Caucasian (USA) | GJA8 | NM_005267.4 | c.226C>T | p.(Arg7 6Cys) | Cosegregates: present in 3 affected, absent in 2 unaffected persons | 0/13,005 | Probably damaging/deleterious | No |
| Patient 15 | Congenital cataract | Unreported (USA) | EYA1 | NM_000503.4 | c.121G>A | p.(Glu4 1Lys) | Not determined: no family members available for testing | 0/12,949 | Possibly damaging/tolerated | No |
| Patient 18 | Congenital cataract; microphthal mia/microcorne a, corneal opacity, glaucoma | Caucasian (USA) | CRYGC | NM_020989.3 | c.417C>G | p.(Tyr139*) | Cosegregates: present in 2 affected, absent in 2 unaffected persons | 0/12,971 | N/A (premature truncation) | No |
| Patient 22 | Congenital cataract, microcornea, macrocephaly; coloboma, glaucoma | Caucasian (Canada) | CRYAA | NM_000394.2 | c.34C>T | p.(Arg1 2Cys) | Cosegregates: present in 3 affected persons | 0/12,961 | Probably damaging/deleterious | Reviewed in Huang and He, 2010 |
| Novel cataract genes | ||||||||||
| Patient 4 | Congenital cataract; myopia, glaucoma | Hispanic (Urugua y) | CRYBA2 | NM_057093.1 | c.148G>A | p.(Val50Met) | Cosegregates with incomplete penetrance: present in 7 affected, 3 obligate carriers; absent in 3 unaffected persons | 0/12,948 | Probably damaging/deleterious | No |
a
variable features within the family are noted in italics; cataracts, unless specified, are bilateral;
b
allelle frequency provided for average number of chromosomes covered for the region according to the EVS database.