A new locus for autosomal dominant cataract on chromosome 19: Linkage analyses and screening of candidate genes

Investigative Ophthalmology and Visual Science

Volumn 47, Issue 8, 2006, Pages 3441-3449

  Bateman, J Bronwyn ^a,b   Richter, Leslie ^a,b   Flodman, Pamela ^c   Burch, Douglas ^a   Brown, Sandra ^c   Penrose, Philip ^b,d   Paul, Otis ^d   Geyer, David D ^e   Brooks, David G ^f,g   Spence, M Anne ^c  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF DENVER   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d California Presbyterian Medical Center   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

^g MERCK RESEARCH LABORATORIES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER; FERRITIN; GENE PRODUCT; PROTEIN ADC4;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADC4 GENE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CATARACT; CHROMOSOME 19; CLINICAL ARTICLE; CONTROLLED STUDY; FTL GENE; GENE; GENE AMPLIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC SCREENING; HUMAN; HUMAN CELL; HUMAN TISSUE; LIM2 GENE; PENETRANCE; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE TAGGED SITE; SIX5 GENE; CHROMOSOME MAP; DOMINANT GENE; FEMALE; GENETIC MARKER; GENETICS; GENOME; GENOTYPE; MALE; PEDIGREE; POLYMERASE CHAIN REACTION;

CATARACT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 19; FEMALE; GENES, DOMINANT; GENETIC MARKERS; GENETIC SCREENING; GENOME, HUMAN; GENOTYPE; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 33748120774     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.05-1035     Document Type: Article

References (108)

1. Stoll C, Alembik Y, Dott B, Roth MP. Epidemiology of congenital eye malformations in 131,760 consecutive births. Ophthalmic Paediatr Genet. 1992;13:179-186.
2. Bermejo E, Martinez-Frias ML. Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet. 1998;75:497-504.
3. Bhatti TR, Dott M, Yoon PW, Moore CA, Gambrell D, Rasmussen SA. Descriptive epidemiology of infantile cataracts in metropolitan Atlanta, GA, 1968-1998. Arch Pediatr Adolesc Med. 2003;157:341-347.
4. Wirth MG, Russell-Eggitt IM, Craig JE, Elder JE, Mackey DA. Aetiology of congenital and paediatric cataract in an Australian population. Br J Ophthalmol. 2002;86:782-786.
5. Rahi JS, Dezateaux C. Measuring and interpreting the incidence of congenital ocular anomalies: lessons from a national study of congenital cataract in the UK. Invest Ophthalmol Vis Sci. 2001;42:1444-1448.
6. SanGiovanni JP, Chew EY, Reed GF, et al. Infantile cataract in the collaborative perinatal project: prevalence and risk factors. Arch Ophthalmol. 2002;120:1559-1565.
7. Rahi JS, Dezateux C. Congenital and infantile cataract in the United Kingdom: underlying or associated factors. British Congenital Cataract Interest Group. Invest Ophthalmol Vis Sci. 2000;41:2108-2114.
8. Haargaard B, Wohlfahrt J, Fledelius HC, Rosenberg T, Melbye M. A nationwide Danish study of 1027 cases of congenital/infantile cataracts: etiological and clinical classifications. Ophthalmology. 2004;111:2292-2298.
9. Francis PJ, Berry V, Bhattacharya SS, Moore AT. The genetics of childhood cataract. J Med Genet. 2000;37:481-488.
10. Lee JB, Benedict WL. Hereditary nuclear cataract. AMA Arch Ophthalmol. 1950;44:643-650.
11. Jaafar MS, Robb RM. Congenital anterior polar cataract: a review of 63 cases. Ophthalmology. 1984;91:249-254.
12. Tulloh CG. Hereditary posterior polar cataract with report of a pedigree. Br J Ophthalmol. 1955;39:374-379.
13. Gunn RM. Peculiar coralliform cataract with crystals in the lens. Trans Ophthalmol Soc UK. 1895;15:119.
14. Armitage MM, Kivlin JD, Ferrell RE. A progressive early onset cataract gene maps to human chromosome 17q24. Nat Genet. 1995;9:37- 40.
15. Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S, Shiels A. A new locus for dominant "zonular pulverulent" cataract, on chromosome 13. Am J Hum Genet. 1997;60:1474-1478.
16. Ionides A, Francis P, Berry V, et al. Clinical and genetic heterogeneity in autosomal dominant cataract. Br J Ophthalmol. 1999;83:802-808.
17. Basti S, Hejtmancik JF, Padma T, et al. Autosomal dominant zonular cataract with sutural opacities in a four-generation family. Am J Ophthalmol. 1996;121:162-168.
18. Vanita, Singh JR, Sarhadi VK, et al. A novel form of "central pouchlike" cataract, with sutural opacities, maps to chromosome 15q21-22. Am J Hum Genet. 2001;68:509-514.
19. Finzi S, Li YY, Mitchell TN, Farr A, Sundin O, Maumenee IH. Posterior polar cataract: clinical spectrum and genetic analysis in a large family (Abstract). American Society of Human Genetics (ASHG); Annual Meeting: 2002:1656.
20. Berry V, Francis P, Reddy MA, et al. Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet. 2001;69:1141-1145.
21. Vanita, Sarhadi V, Reis A, et al. A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene. J Med Genet. 2001;38:392-396.
22. Litt M, Carrero-Valenzuela R, LaMorticella DM, et al. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet. 1997;6:665-668.
23. Gill D, Klose R, Munier FL, et al. Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. Invest Ophthalmol Vis Sci. 2000;41:159-165.
24. Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am J Hum Genet. 1998;62:526-532.
25. Willoughby CE, Arab S, Gandhi R, et al. A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. J Med Genet. 2003;40:E124.
26. Mackay D, Ionides A, Kibar Z, et al. Connexin46 mutations in autosomal dominant congenital cataract. Am J Hum Genet. 1999; 64:1357-1364.
27. Jiang H, Jin Y, Bu L, et al. A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract. Mol Vis. 2003;9:579 -583.
28. Qi Y, Jia H, Huang S, et al. A deletion mutation in the betaA1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family. Hum Genet. 2004;114:192-197.
29. Bennett TM, Mackay DS, Knopf HL, Shiels A. A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q. Mol Vis. 2004;10:376-382.
30. Berry V, Francis P, Kaushal S, Moore A, Bhattacharya S. Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. Nat Genet. 2000;25:15-17.
31. Heon E, Priston M, Schorderet DF, et al. The gamma-crystallins and human cataracts: a puzzle made clearer. Am J Hum Genet. 1999;65:1261-1267.
32. Stephan DA, Gillanders E, Vanderveen D, et al. Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. Proc Natl Acad Sci USA. 1999;96:1008-1012.
33. Nandrot E, Slingsby C, Basak A, et al. Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. J Med Genet. 2003;40:262-267.
34. Mackay DS, Andley UP, Shiels A. A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral- like" cataract linked to chromosome 2q. Mol Vis. 2004;10:155-162.
35. Burdon KP, Wirth MG, Mackey DA, et al. Investigation of crystallin genes in familial cataract, and report of two disease associated mutations. Br J Ophthalmol. 2004;88:79-83.
36. Xu WZ, Zheng S, Xu SJ, Huang W, Yao K, Zhang SZ. Autosomal dominant coralliform cataract related to a missense mutation of the gammaD-crystallin gene. Chin Med J (Engl). 2004;117:727-732.
37. Shentu X, Yao K, Xu W, Zheng S, Hu S, Gong X. Special fasciculiform cataract caused by a mutation in the gammaD-crystallin gene. Mol Vis. 2004;10:233-239.
38. Kannabiran C, Rogan PK, Olmos L, et al. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. Mol Vis. 1998;4:21.
39. Bateman JB, Geyer DD, Flodman P, et al. A new betaA1-crystallin splice junction mutation in autosomal dominant cataract. Invest Ophthalmol Vis Sci. 2000;41:3278-3285.
40. Qi YH, Jia HY, Huang SZ, et al. [Autosomal dominant congenital nuclear cataract caused by a deletion mutation in the beta A1-crystallin gene.] Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003;20:486-489.
41. Ferrini W, Schorderet DF, Othenin-Girard P, Uffer S, Heon E, Munier FL. CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype. Invest Ophthalmol Vis Sci. 2004;45:1436-1441.
42. Santhiya ST, Manisastry SM, Rawlley D, et al. Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene. Invest Ophthalmol Vis Sci. 2004;45:3599-3607.
43. Mackay DS, Boskovska OB, Knopf HL, Lampi KJ, Shiels A. A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. Am J Hum Genet. 2002;71:1216-1221.
44. Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum Mol Genet. 1998;7:471-474.
45. Mackay DS, Andley UP, Shiels A. Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q. Eur J Hum Genet. 2003;11:784-793.
46. Jakobs PM, Hess JF, FitzGerald PG, Kramer P, Weleber RG, Litt M. Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. Am J Hum Genet. 2000;66:1432-1436.
47. Conley YP, Erturk D, Keverline A, et al. A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. Am J Hum Genet. 2000;66:1426-1431.
48. Zhang Q, Guo X, Xiao X, Yi J, Jia X, Hejtmancik JF. Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. Mol Vis. 2004;10:890-900.
49. Beaumont C, Leneuve P, Devaux I, et al. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nat Genet. 1995;11:444-446.
50. Girelli D, Olivieri O, De Franceschi L, Corrocher R, Bergamaschi G, Cazzola M. A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract. Br J Haematol. 1995;90:931-934.
51. Aguilar-Martinez P, Biron C, Masmejean C, Jeanjean P, Schved JF. A novel mutation in the iron responsive element of ferritin Lsubunit gene as a cause for hereditary hyperferritinemia-cataract syndrome (Letter; comment). Blood. 1996;88:1895.
52. Cazzola M, Bergamaschi G, Tonon L, et al. Hereditary hyperferritinemia- cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA (see comments). Blood. 1997;90:814-821.
53. Girelli D, Corrocher R, Bisceglia L, et al. Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene. Blood. 1997;90:2084-2088.
54. Martin ME, Fargion S, Brissot P, Pellat B, Beaumont C. A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome (see comments). Blood. 1998;91:319-323.
55. Mumford AD, Vulliamy T, Lindsay J, Watson A. Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the Lferritin iron-responsive element (Letter; comment). Blood. 1998;91:367-368.
56. McLeod JL, Craig J, Gumley S, Roberts S, Kirkland MA. Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations. Br J Haematol. 2002;118:1179-1182.
57. Garderet L, Hermelin B, Gorin NC, Rosmorduc O. Hereditary hyperferritinemia-cataract syndrome: a novel mutation in the iron-responsive element of the L-ferritin gene in a French family. Am J Med. 2004;117:138-139.
58. Simsek S, Nanayakkara PW, Keek JM, Faber LM, Bruin KF, Pals G. Two Dutch families with hereditary hyperferritinaemia-cataract syndrome and heterozygosity for an HFE-related haemochromatosis gene mutation. Neth J Med. 2003;61:291-295.
59. Semina EV, Ferrell RE, Mintz-Hittner HA, et al. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat Genet. 1998;19:167-170.
60. Yang Z, Pellerano G, Valdez-Guerrero ME, et al. A novel mutation in PITX3 associated with an autosomal dominant form of congenital cataract (Abstract). ASHG Annual Meeting: 2002:2080.
61. Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, Maas RL. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects (published correction appears in Nat Genet. 1994;8:203). Nat Genet. 1994;7:463-471.
62. Azuma N, Yamaguchi Y, Handa H, Hayakawa M, Kanai A, Yamada M. Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Am J Hum Genet. 1999;65:656-663.
63. Vanita V, Singh D, Robinson PN, Sperling K, Singh JR. A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family. Am J Med Genet A. 2006;140:558-566.
64. Bu L, Jin Y, Shi Y, et al. Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. Nat Genet. 2002;31:276-278.
65. Ott J. A computer program for linkage analysis of general human pedigrees. Am J Hum Genet. 1976;28:528-529.
66. Cottingham RW Jr, Idury RM, Schaffer AA. Faster sequential genetic linkage computations. Am J Hum Genet. 1993;53:252-263.
67. Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984;36:460-465.
68. Lathrop GM, Lalouel JM, White RL. Construction of human linkage maps: likelihood calculations for multilocus linkage analysis. Genet Epidemiol. 1986;3:39-52.
69. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet. 1996;58:1347-1363.
70. National Center For BioTechnology Information (NCBI). Bethesda, MD: National Institutes of Health: http://www.ncbi.nlm.nih.gov/ 2005.
71. Hubbard T, Barker D, Birney E, et al. The Ensembl genome database project. Nucleic Acids Res. 2002;30:38-41. Available at http://www.ensembl.org/ 2005.
72. Girelli D, Corrocher R, Bisceglia L, et al. Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation") (see comments). Blood. 1995;86:4050-4053.
73. SeattleSNPs. NHLBI (National Heart, Lung, and Blood Institute) Program for Genomic Applications, Seattle, WA: University of Washington, Fred Hutchinson Cancer Research Center; 2005. Available at http://pga.mbt.washington.edu.
74. Pisano MM, Chepelinsky AB. Genomic cloning, complete nucleotide sequence, and structure of the human gene encoding the major intrinsic protein (MIP) of the lens. Genomics. 1991;11:981-990.
75. Gorin MB, Yancey SB, Cline J, Revel JP, Horwitz J. The major intrinsic protein (MIP) of the bovine lens fiber membrane: characterization and structure based on cDNA cloning. Cell. 1984;39:49-59.
76. Shiels A, Griffin CS. Aberrant expression of the gene for lens major intrinsic protein in the CAT mouse. Curr Eye Res. 1993;12:913-921.
77. Shiels A, Bassnett S. Mutations in the founder of the MIP gene family underlie cataract development in the mouse. Nat Genet. 1996;12:212-215.
78. Sidjanin DJ, Parker-Wilson DM, Neuhauser-Klaus A, et al. A 76-bp deletion in the Mip gene causes autosomal dominant cataract in Hfi mice. Genomics. 2001;74:313-319.
79. Okamura T, Miyoshi I, Takahashi K, et al. Bilateral congenital cataracts result from a gain-of-function mutation in the gene for aquaporin-0 in mice. Genomics. 2003;81:361-368.
80. Geyer DD, Spence MA, Johannes M, et al. Novel single base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract. Am J Ophthalmol. 2006;141:761-763.
81. Tenbroek E, Arneson M, Jarvis L, Louis C. The distribution of the fiber cell intrinsic membrane proteins MP20 and connexin46 in the bovine lens. J Cell Sci. 1992;103:245-257.
82. Arneson ML, Louis CF. Structural arrangement of lens fiber cell plasma membrane protein MP20. Exp Eye Res. 1998;66:495-509.
83. Kerscher S, Glenister PH, Favor J, Lyon MF. Two new cataract loci, Ccw and To3, and further mapping of the Npp and Opj cataracts in the mouse. Genomics. 1996;36:17-21.
84. Kerscher S, Church RL, Boyd Y, Lyon MF. Mapping of four mouse genes encoding eye lens-specific structural, gap junction, and integral membrane proteins: Cryba1 (crystallin beta A3/A1), Crybb2 (crystallin beta B2), Gja8 (MP70), and Lim2 (MP19). Genomics. 1995;29:445-450.
85. Steele EC Jr, Kerscher S, Lyon MF, et al. Identification of a mutation in the MP19 gene, Lim2, in the cataractous mouse mutant To3. Mol Vis. 1997;3:5.
86. Steele EC Jr, Wang JH, Lo WK, Saperstein DA, Li X, Church RL. Lim2(To3) transgenic mice establish a causative relationship between the mutation identified in the lim2 gene and cataractogenesis in the To3 mouse mutant. Mol Vis. 2000;6:85-94.
87. Taylor V, Welcher AA, Program AE, Suter U. Epithelial membrane protein-1, peripheral myelin protein 22, and lens membrane protein 20 define a novel gene family. J Biol Chem. 1995;270:28824-28833.
88. Zhou L, Li X, Church RL. The mouse lens fiber-cell intrinsic membrane protein MP19 gene (Lim2) and granule membrane protein GMP-17 gene (Nkg7): Isolation and sequence analysis of two neighboring genes. Mol Vis. 2001;7:79-88.
89. Zhou L, Chen T, Church RL. Temporal expression of three mouse lens fiber cell membrane protein genes during early development. Mol Vis. 2002;8:143-148.
90. Pras E, Levy-Nissenbaum E, Bakhan T, et al. A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. Am J Hum Genet. 2002;70:1363-1367.
91. Davis BM, McCurrach ME, Taneja KL, Singer RH, Housman DE. Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc Natl Acad Sci USA. 1997;94:7388-7393.
92. Wang J, Pegoraro E, Menegazzo E, et al. Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum Mol Genet. 1995;4:599-606.
93. Tiscornia G, Mahadevan MS. Myotonic dystrophy: the role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios. Mol Cell. 2000;5:959-967.
94. Phillips MF, Rogers MT, Barnetson R, et al. PROMM: the expanding phenotype: a family with proximal myopathy, myotonia and deafness. Neuromuscul Disord. 1998;8:439-446.
95. Mankodi A, Logigian E, Callahan L, et al. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science. 2000;289:1769-1773.
96. Otten AD, Tapscott SJ. Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure. Proc Natl Acad Sci USA. 1995;92:5465-5469.
97. Klesert TR, Otten AD, Bird TD, Tapscott SJ. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat Genet. 1997;16:402-406.
98. Thornton CA, Wymer JP, Simmons Z, McClain C, Moxley RT 3rd. Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nat Genet 1997;16:407-409.
99. Klesert TR, Cho DH, Clark JI, et al. Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Nat Genet. 2000;25:105-109.
100. Sarkar PS, Appukuttan B, Han J, et al. Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. Nat Genet. 2000;25:110-114.
101. Winchester CL, Ferrier RK, Sermoni A, Clark BJ, Johnson KJ. Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy. Hum Mol Genet. 1999;8:481-492.
102. Bonneau D, Winter-Fuseau I, Loiseau MN, et al. Bilateral cataract and high serum ferritin: a new dominant genetic disorder? J Med Genet. 1995;32:778-779.
103. Cazzola M, Cremonesi L, Papaioannou M, et al. Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). Br J Haematol. 2002;119:539-546.
104. Curtis AR, Fey C, Morris CM, et al. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet. 2001;28:350-354.
105. Girelli D, Bozzini C, Zecchina G, et al. Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia- cataract syndrome. Br J Haematol. 2001;115:334-340.
106. Lachlan KL, Temple IK, Mumford AD. Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome. Eur J Hum Genet. 2004;12:790-796.
107. Phillips JD, Warby CA, Kushner JP. Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome (Abstract). Am J Med Genet. A. 2005;134:77-79.
108. Riazuddin SA, Yasmeen A, Zhang Q, et al. A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family. Invest Ophthalmol Vis Sci. 2005;46:623-626.