Download mv-v22-589-app

Table S1. List of the 61 selected genes and related lens diseases.
Name
Gene ID (NCBI)/
Inheritance pattern
disease
ADAMTS17
170691
AR
lens luxation[1],
Weill-Marchesani
syndrome[2]
ADAMTSL4
54507
AR
ectopialentis[3]
AGK
55750
AR
Sengers syndrome[4],
cataract[5]
BFSP1
631
AD
cataract [6]
BFSP2
8419
AD/AR
cataract [7]
CHMP4B
128866
AD
cataract [8]
COL4A5
5308
AD
Alport syndrome[9]
CRYAA
1409
AD/AR
cataract [5]
CRYAB
1410
AD
cataract [5]
CRYBA1
1411
AD
cataract [5]
CRYBA2
1412
AD
cataract [10]
CRYBA4
1413
AD
cataract [5]
CRYBB1
1414
AD/AR
cataract [5]
CRYBB2
1415
AD
cataract [5]
CRYBB3
1417
AD/AR
cataract [5][10]
CRYGA
1418
AD
cataract [11]
CRYGC
1420
AD
cataract [5]
CRYGD
1421
AD/AR
cataract [5]
CRYGS
1427
AD
cataract [5]
CYP1B1
1545
microphthalmia[12],
AD
glaucoma[13]
EPHA2
1969
AD/AR
cataract[14]
EYA1
2138
AD
cataracts and ocular anterior
segment anomalies[15]
FBN1
2296
AD
Marfan syndrome[16]
FOXC1
4092
AD
aniridia[17], Axenfeld-Rieger
syndrome and glaucoma[18]
FOXE3
2301
AD
cataract [5], anterior ocular
malformations and
glaucoma [19],
microphthalmia[20]
FTL
2512
AD
cataract [21]
FYCO1
79443
AR
cataract [22]
GALK1
2584
AR
cataract [23]
GCNT2
2651
AR
cataract [24]
GJA1
2697
AD
cataract [25]
GJA3
2700
AD
cataract [25]
GJA8
2703
AD/AR
cataract [25]
GSTM1
23411
AR
cataract [26]
GSTT1
2944
AR
cataract [26]
HIF1A
3091
cataract [27]
HSF4
3299
AD/AR
cataract [27]
LIM2
3982
AR
cataract [28]
LOXL1
4016
primary open-angle
glaucoma[29], exfoliation
syndrome[30]
MAF
4094
AD
cataract [31]
MIP
4284
AD
cataract [32]
MTHFR
4524
cataract [33]
AR
MYOC
4653
AD
Axenfeld-Rieger syndrome
and glaucoma[13, 34]
NHS
4810
XL
cataract[35],Nance-Horan
syndrome[36]
OPTN
10133
AR
glaucoma [13]
OTX2
6657
AD
cataract [37]
PAX6
5080
AD
autosomal-dominant
nystagmus, foveal
hypoplasia and presenile
cataract[38], congenital
aniridia[39]
PITX2
30062
AD
aniridia[40], peters' anomaly
and persistent hyperplastic
primary vitreous[41]
PITX3
5309
AD
cataract[42], aniridia[43]
PXDN
7837
AR
microphthalmia[44],
congenital cataract, corneal
opacity, and developmental
glaucoma[45]
RAX
5015
AR
anophthalmia[46],
microphthalmia[20]
SIL1
64374
AR
Marinesco-Sjogren
syndrome[47]
SIRT1
2200
AD
cataract [48]
SLC16A12
387700
AD
cataract [49]
SMAD7
1287
AD
cataract [50]
SOX2
6657
AD
microphthalmia[51]
TDRD7
23424
AR
cataract[52]
TMEM114
283953
AD
cataract[53]
VIM
7431
cataract[54]
VSX1
2952
AD
keratoconus[55]
VSX2
338917
AR
lens subluxation and retinal
dysfunction[56],
microphthalmia[20]
WDR36
134430
AD
glaucoma[13]
AD: autosomal dominant; AR: autosomal recessive; XL: X-link
References:
1. Gould D, Pettitt L, McLaughlin B, Holmes N, Forman O, Thomas A, AhonenS, LohiH, O'LearyC,
SarganD, MellershC. ADAMTS17 mutation associated with primary lens luxation is widespread among
breeds. VET OPHTHALMOL 2011; 14(6):378-84.
2. Shah MH, Bhat V, Shetty JS, Kumar A. Whole exome sequencing identifies a novel splice-site
mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. MOL VIS 2014; 20:790-6.
3. Zhou XM, Wang Y, Zhao L, Yu WH, Fan N, Yan NH, SuQ, LiangY Q,WangY, Li L P, Cai S P, Jonas J B,
Liu X Y. Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family
with isolated ectopia lentis. ACTA OPHTHALMOL 2015; 93(1):e91-2.
4. Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger R
G, Mayr J A, Rotig A, Lebre A S, Klopstock T, Dworschak A, Pulido N, Saeed M A
Saleh-Gohari N, Holzerova E, Chinnery P F, Taylor R W, Prokisch H. Sengers syndrome: six novel AGK
mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
ORPHANET J RARE DIS 2014; 9:119.
5. Shiels A, Hejtmancik JF. Genetics of human cataract. CLIN GENET 2013; 84(2):120-7.
6. Wang H, Zhang T, Wu D, Zhang J. A novel beaded filament structural protein 1 (BFSP1) gene
mutation associated with autosomal dominant congenital cataract in a Chinese family. MOL VIS 2013;
19:2590-5.
7. Liu Q, Wang KJ, Zhu SQ. A novel p.G112E mutation in BFSP2 associated with autosomal dominant
pulverulent
cataract with sutural opacities. CURR EYE RES 2014; 39(10):1013-9.
8. Sagona AP, Nezis IP, Stenmark H. Association of CHMP4B and autophagy with micronuclei:
implications for cataract formation. BIOMED RES INT 2014; 2014:974393.
9. Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC,Gregory M C, Skolnick M H, Atkin
C L, Tryggvason K. Identification of mutations in the COL4A5 collagen gene in Alport syndrome.
SCIENCE 1990; 248(4960):1224-7.
10. Reis LM, Tyler RC, Muheisen S, Raggio V, Salviati L, Han DP, Costakos D, Yonath H, Hall S, Power P,
Semina E V. Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2,
and a variety of novel alleles in known genes. HUM GENET 2013; 132(7):761-70.
11. Huang B, He W. Molecular characteristics of inherited congenital cataracts. EUR J MED GENET
2010; 53(6):347-57.
12. Prokudin I, Simons C, Grigg JR, Storen R, Kumar V, Phua ZY, Smith J, Flaherty M, Davila S,
Jamieson R V. Exome sequencing in developmental eye disease leads to identification of causal
variants in GJA8, CRYGC, PAX6 and CYP1B1. EUR J HUM GENET 2014; 22(7):907-15.
13. Abu-Amero KK, Bosley TM, Morales J. Analysis of nuclear and mitochondrial genes in patients
with pseudoexfoliation glaucoma. MOL VIS 2008; 14:29-36.
14. Reis LM, Tyler RC, Semina EV. Identification of a novel C-terminal extension mutation in EPHA2 in
a family affected with congenital cataract. MOL VIS 2014; 20:836-42.
15. Azuma N, Hirakiyama A, Inoue T, Asaka A, Yamada M. Mutations of a human homologue of the
Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior
segment anomalies. HUM MOL GENET 2000; 9(3):363-6.
16. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger E G, Hamosh A,
Nanthakumar E J, Curristin S M. Marfan syndrome caused by a recurrent de novo missense mutation
in the fibrillin
gene. NATURE 1991; 352(6333):337-9.
17. Ito YA, Footz TK, Berry FB, Mirzayans F, Yu M, Khan AO, Walter M A. Severe molecular defects of a
novel FOXC1 W152G mutation result in aniridia. Invest Ophthalmol Vis Sci 2009; 50(8):3573-9.
18. Pasutto F, Mauri L, Popp B, Sticht H, Ekici A, Piozzi E, Bonfante A, PencoS, Schlotzer-Schrehardt U,
Reis A. Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with
unrecognized Axenfeld-Rieger syndrome and glaucoma. GENE 2015; 568(1):76-80.
19. Islam L, Kelberman D, Williamson L, Lewis N, Glindzicz MB, Nischal KK,Sowden J C. Functional
analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease. HUM
MUTAT 2015; 36(3):296-300.
20. Williamson KA, FitzPatrick DR. The genetic architecture of microphthalmia, anophthalmia and
coloboma. EUR J MED GENET 2014; 57(8):369-80.
21. Bennett TM, Maraini G, Jin C, Sun W, Hejtmancik JF, Shiels A. Noncoding variation of the gene for
ferritin light chain in hereditary and age-related cataract. MOL VIS 2013; 19:835-44.
22. Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S,
Riazuddin S A,Hejtmancik J F. Mutations in FYCO1 cause autosomal-recessive congenital cataracts. AM
J HUM GENET 2011; 88(6):827-38.
23. Chacon-Camacho OF, Buentello-Volante B, Velazquez-Montoya R, Ayala-Ramirez R, Zenteno JC.
Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital
cataracts in 4 adult siblings. GENE 2014; 534(2):218-21.
24. Wussuki-Lior O, Abu-Horowitz A, Netzer I, Almer Z, Morad Y, Goldich Y, Yahalom V, Pras E, Pras E.
Hematologic biomarkers in childhood cataracts. MOL VIS 2011; 17:1011-5.
25. Yi J, Yun J, Li ZK, Xu CT, Pan BR. Epidemiology and molecular genetics of congenital cataracts. Int J
Ophthalmol 2011; 4(4):422-32.
26. Liao RF, Ye MJ, Liu CY, Ye DQ. An Updated Meta-Analysis: Risk Conferred by Glutathione
S-Transferases (GSTM1 and GSTT1) Polymorphisms to Age-Related Cataract. J OPHTHALMOL 2015;
2015:103950.
27. Chen Y, Wu Q, Miao A, Jiang Y, Wu X, Wang Z, Wu F, LuY. Effect of HSF4b on age related cataract
may through its novel downstream target Hif1alpha. Biochem Biophys Res Commun 2014;
453(3):674-8.
28. Zhou Z, Wang B, Hu S, Zhang C, Ma X, Qi Y. Genetic variations in GJA3, GJA8, LIM2, and
age-related cataract in the Chinese population: a mutation screening study. MOL VIS 2011; 17:621-6.
29. Wu M, Zhu XY, Ye J. Associations of polymorphisms of LOXL1 gene with primary open-angle
glaucoma: a meta-analysis based on 5,293 subjects. MOL VIS 2015; 21:165-72.
30. Thorleifsson G, Magnusson KP, Sulem P, Walters GB, Gudbjartsson DF, Stefansson H, Jonsson T,
Jonasdottir A, Jonasdottir A, Stefansdottir G, Masson G, Hardarson G A, Petursson H, Arnarsson A,
Motallebipour M, Wallerman O, Wadelius C, Gulcher J R, Thorsteinsdottir U, Kong A, Jonasson F,
Stefansson K. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation
glaucoma. SCIENCE 2007; 317(5843):1397-400.
31. Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M,Traversa A, Ciolfi A, StableyD,
Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza M T, Boitani C, Philip N, Niyazov D, LeoniC,
Nakane T, Keppler-Noreuil K, Braddock S R, Gillessen-Kaesbach G, Palleschi A, Campeau PM, Lee B H,
Pouponnot C, Stella L, Bocchinfuso G, Katsanis N, Sol-Church K, Tartaglia M. Mutations Impairing
GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a
Down Syndrome-like Facies. AM J HUM GENET 2015; 96(5):816-25.
32. Shentu X, Miao Q, Tang X, Yin H, Zhao Y. Identification and Functional Analysis of a Novel MIP
Gene Mutation Associated with Congenital Cataract in a Chinese Family. PLOS ONE 2015;
10(5):e126679.
33. Zetterberg M, Tasa G, Prince JA, Palmer M, Juronen E, Veromann S, Teesalu P, Karlsson J O,
Blennow K, Zetterberg H. Methylenetetrahydrofolate reductase genetic polymorphisms in patients
with cataract. AM J OPHTHALMOL 2005; 140(5):932-4.
34. Pasutto F, Mauri L, Popp B, Sticht H, Ekici A, Piozzi E,Bonfante A, Penco S, Schlotzer-Schrehardt U,
Reis A. Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with
unrecognized Axenfeld-Rieger syndrome and glaucoma. GENE 2015; 568(1):76-80.
35. Sun W, Xiao X, Li S, Guo X, Zhang Q. Exome sequencing of 18 Chinese families with congenital
cataracts: a new sight of the NHS gene. PLOS ONE 2014; 9(6):e100455.
36. Li A, Li B, Wu L, Yang L, Chen N, Ma Z. Identification of a novel NHS mutation in a Chinese family
with Nance-Horan syndrome. CURR EYE RES 2015; 40(4):434-8.
37. Pras E, Mahler O, Kumar V, Frydman M, Gefen N, Pras E, Hejtmancik J F.
A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to
chromosome 14q22-23. J MED GENET 2006; 43(10):e50.
38. Thomas S, Thomas MG, Andrews C, Chan WM, Proudlock FA, McLean RJ, Pradeep A, Engle E C,
Gottlob I. Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a
novel PAX6 mutation. EUR J HUM GENET 2014; 22(3):344-9.
39. Lee PC, Lam HH, Ghani SA, Subrayan V, Chua KH. Investigation of a PAX6 gene mutation in a
Malaysian family with congenital aniridia. GENET MOL RES 2014; 13(2):3553-9.
40. Law SK, Sami M, Piri N, Coleman AL, Caprioli J. Asymmetric phenotype of Axenfeld-Rieger
anomaly and aniridia associated with a novel PITX2 mutation. MOL VIS 2011; 17:1231-8.
41. Arikawa A, Yoshida S, Yoshikawa H, Ishikawa K, Yamaji Y, Arita RI,Ueno A, Ishibashi T. Case of
novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary
vitreous. Eye (Lond) 2010; 24(2):391-3.
42. Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser Daack-Hirsch
S, Murray J C. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts
and ASMD. NAT GENET 1998; 19(2):167-70.
43. Khan AO, Aldahmesh MA, Alkuraya FS.Genetic and genomic analysis of classic aniridia in Saudi
Arabia.MOL VIS 2011; 17:708-14.
44. Choi A, Lao R, Ling-Fung TP, Wan E, Mayer W, Bardakjian T, Shaw G M, Kwok P Y, Schneider A,
Slavotinek, A. Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis. EUR J
HUM GENET 2015; 23(3):337-41.
45. Khan K, Rudkin A, Parry DA, Burdon KP, McKibbin M, Logan CV,Abdelhamed Z I, Muecke J S,
Fernandez-Fuentes N, Laurie K J, Shires M, Fogarty R, Carr I M, Poulter J A, Morgan J E, Mohamed M D,
Jafri H, Raashid Y, Meng N, Piseth H, Toomes C, Casson R J, Taylor G R, Hammerton M, Sheridan E,
Johnson C A, Inglehearn C F, Craig J E, Ali M. Homozygous mutations in PXDN cause congenital cataract,
corneal opacity, and developmental glaucoma. AM J HUM GENET 2011; 89(3):464-73.
46. Abouzeid H, Youssef MA, Bayoumi N, ElShakankiri N, Marzouk I, Hauser P,Schorderet D F.
RAX and anophthalmia in humans: evidence of brain anomalies. MOL VIS 2012; 18:1449-56.
47. Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, et al. SIL1 mutations and clinical
spectrum in patients with Marinesco-Sjogren syndrome. BRAIN 2013; 136(Pt 12):3634-44.
48. Zheng T, Lu Y. Changes in SIRT1 expression and its downstream pathways in age-related cataract
in humans. CURR EYE RES 2011; 36(5):449-55.
49. Zuercher J, Neidhardt J, Magyar I, Labs S, Moore AT, Tanner FC,Waseem N, Schorderet D F,
Munier F L, Bhattacharya S, Berger W, Kloeckener-Gruissem B. Alterations of the 5'untranslated region
of SLC16A12 lead to age-related cataract. Invest Ophthalmol Vis Sci 2010; 51(7):3354-61.
50. Suzuki S, Sagara H, Senoo T. Developmental factors of fibrous opacification in the atopic cataract
lens capsule. OPHTHALMIC RES 2011; 45(4):216-20.
51. Mauri L, Franzoni A, Scarcello M, Sala S, Garavelli L, Modugno A, Grammatico P, Patrosso M C,
Piozzi E, Del Longo A,Gesu G P, Manfredini E, Primignani P, Damante G, Penco S. SOX2, OTX2 and PAX6
analysis in subjects with anophthalmia and microphthalmia. EUR J MED GENET 2015; 58(2):66-70.
52. Shao DW, Yang CY, Liu B, Chen W, Wang H, Ru HX, Zhang M, Wang Y. Bioinformatics Analysis of
Potential Candidates for Therapy of TDRD7 Deficiency-Induced Congenital Cataract. OPHTHALMIC RES
2015; 54(1):10-7.
53. Maher GJ, Hilton EN, Urquhart JE, Davidson AE, Spencer HL, Black GC,Manson F D. The
cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that
are distinct from claudin family members. FEBS LETT 2011; 585(14):2187-92.
54. Matsuyama M, Tanaka H, Inoko A, Goto H, Yonemura S, Kobori K, Hayashi Y, Kondo E, Itohara S,
Izawa I, Inagaki M. Defect of mitotic vimentin phosphorylation causes microophthalmia and cataract
via aneuploidy and senescence in lens epithelial cells. J BIOL CHEM 2013; 288(50):35626-35.
55. Shetty R, Nuijts RM, Nanaiah SG, Anandula VR, Ghosh A, Jayadev C, Pahuja N, Kumaramanickavel
G, Nallathambi J. Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of
families with Keratoconus from India. BMC MED GENET 2015; 16:33.
56. Khan AO, Aldahmesh MA, Noor J, Salem A, Alkuraya FS.Lens subluxation and retinal dysfunction
in a girl with homozygous VSX2 mutation. OPHTHALMIC GENET 2015; 36(1):8-13.