Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research

1Pearce WG, Nigam S, Rootman J. Primary anophthalmos. Histological and genetic features. Can J Ophthalmol. 1974; 9(1): 141-145.PearceWGNigamSRootmanJ.Primary anophthalmos. Histological and genetic featuresCan J Ophthalmol197491141145Search in Google Scholar

2McLean CJ, Ragge NK, Jones RB, Collin JRO. The management of orbital cysts associated with congenital microphthalmos and anophthalmos. Br J Ophthalmol. 2003; 87(7): 860-863.McLeanCJRaggeNKJonesRBCollinJRO.The management of orbital cysts associated with congenital microphthalmos and anophthalmosBr J Ophthalmol200387786086310.1136/bjo.87.7.860177174912812886Search in Google Scholar

3Bernardino CR. Congenital anophthalmia: A review of dealing with volume. Middle East Afr J Ophthalmol. 2010; 17(2): 156-160.BernardinoCR.Congenital anophthalmia: A review of dealing with volumeMiddle East Afr J Ophthalmol201017215616010.4103/0974-9233.63082289213220616923Search in Google Scholar

4Verma AS, FitzPatrick DR. Anophthalmia and microphthalmia. Orphanet J Rare Dis. 2007; 2(11): 47-54.VermaASFitzPatrickDR.Anophthalmia and microphthalmiaOrphanet J Rare Dis2007211475410.1186/1750-1172-2-47224609818039390Search in Google Scholar

5Reis LM, Tyler RC, Schneider A, Bardakjian T, Semina EV. Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. Mol Vis. 2010; 16(4): 768-773.ReisLMTylerRCSchneiderABardakjianTSeminaEV.Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypesMol Vis2010164768773Search in Google Scholar

6Schneider A, Bardakjian TM, Zhou J, Hughes N, Keep R, Dorsainville D, et al. Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically normal mother with two affected daughters. Am J Med Genet A. 2008; 146(21): 2794-2798. doi: 1002/ajmg.a.32384.SchneiderABardakjianTMZhouJHughesNKeepRDorsainvilleDet al.Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically normal mother with two affected daughtersAm J Med Genet A20081462127942798doi1002/ajmg.a.32384Open DOISearch in Google Scholar

7Shah SP, Taylor A, Sowden JC, Ragge NK, Russell-Eggitt I, Rahi JS, et al. Anophthalmos, microphthalmos and typical coloboma in the UK: A prospective study of incidence and risk. Invest Ophthalmol Vis Sci. 2011; 52(1): 558-564.ShahSPTaylorASowdenJCRaggeNKRussell-EggittIRahiJSet al.Anophthalmos, microphthalmos and typical coloboma in the UK: A prospective study of incidence and riskInvest Ophthalmol Vis Sci201152155856410.1167/iovs.10-526320574025Search in Google Scholar

8Duke-Elder S. Anophthalmos and extreme microphthalmos: System of Ophthalmology. St Louis, MO, USA: Mosby Year Book, Inc. 1964: 416-423.Duke-ElderS.Anophthalmos and extreme microphthalmos: System of OphthalmologySt Louis, MO, USAMosby Year Book, Inc1964416423Search in Google Scholar

9Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, et al. Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. Mol Vis. 2008; 14(3): 583-592.ZhouJKheraniFBardakjianTMKatowitzJHughesNSchimmentiLAet al.Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmiaMol Vis2008143583592Search in Google Scholar

10Joseph RA. Pedigree of anophthalmos. Br J Ophthalmol. 1957; 41(9): 541-543.JosephRA.Pedigree of anophthalmosBr J Ophthalmol195741954154310.1136/bjo.41.9.54150959713460221Search in Google Scholar

11Oliveira da Silva E, Santana de Sousa S. Clinical anophthalmia. Hum Genet. 1981; 57(1):115-116.Oliveira da SilvaESantana de SousaS.Clinical anophthalmiaHum Genet198157111511610.1007/BF002711837262867Search in Google Scholar

12Gonzalez-Rodriguez J, Pelcastre EL, Tovilla-Canales JL, Garcia-Ortiz JE, Amato-Almanza M, Villaneuva-Mendoza C, et al. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. Br J Ophthalmol. 2010; 94(8): 1100-1104.Gonzalez-RodriguezJPelcastreELTovilla-CanalesJLGarcia-OrtizJEAmato-AlmanzaMVillaneuva-MendozaCet al.Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum casesBr J Ophthalmol20109481100110410.1136/bjo.2009.17350020494911Search in Google Scholar

13Morrison D, FitzPatrick D, Hanson I, Williamson K, van Heyningen V, Fleck B, et al. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: Investigation of genetic aetiology. J Med Genet. 2002; 39(1): 16-22.MorrisonDFitzPatrickDHansonIWilliamsonKvan HeyningenVFleckBet al.National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: Investigation of genetic aetiologyJ Med Genet2002391162210.1136/jmg.39.1.16173496311826019Search in Google Scholar

14Campbell H, Holmes E, MacDonald S, Morrison D, Jones I. A capture-recapture model to estimate prevalence of children born in Scotland with developmental eye defects. J Cancer Epidemiol Prev. 2002; 7(1): 21-28.CampbellHHolmesEMacDonaldSMorrisonDJonesI.A capture-recapture model to estimate prevalence of children born in Scotland with developmental eye defectsJ Cancer Epidemiol Prev200271212810.1080/1476665025296264912369602Search in Google Scholar

15Shaw GM, Carmichael SL, Yang W, Harris JA, Finnell RH, Lammer EJ. Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997. Am J Med Genet A. 2005; 137(1): 36-40.ShawGMCarmichaelSLYangWHarrisJAFinnellRHLammerEJ.Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997Am J Med Genet A20051371364010.1002/ajmg.a.30840Search in Google Scholar

16Kallen B, Tornqvist K. The epidemiology of anophthalmia and microphthalmia in Sweden. Eur J Epidemiol. 2005; 20(4): 345-50.KallenBTornqvistK.The epidemiology of anophthalmia and microphthalmia in SwedenEur J Epidemiol20052043455010.1007/s10654-004-6880-1Search in Google Scholar

17Lowry RB, Kohut R, Sibbald B, Rouleau J. Anophthalmia and microphthalmia in the Alberta congenital anomalies surveillance system. Can J Ophthalmol. 2005;40(1): 38-44.LowryRBKohutRSibbaldBRouleauJ.Anophthalmia and microphthalmia in the Alberta congenital anomalies surveillance systemCan J Ophthalmol2005401384410.1016/S0008-4182(05)80115-2Search in Google Scholar

18Forrester MB, Merz RD. Descriptive epidemiology of anophthalmia and microphthalmia in Hawaii, 1986-2001. Birth Defects. Res A Clin Mol Teratol. 2006; 76(3): 187-192.ForresterMBMerzRD.Descriptive epidemiology of anophthalmia and microphthalmia in Hawaii, 1986-2001. Birth DefectsRes A Clin Mol Teratol200676318719210.1002/bdra.2023716498668Search in Google Scholar

19Hussain R, Bittles AH. The prevalence and demographic characteristics of consanguineous marriages in Pakistan. J Biosoc Sci. 1998; 30(2): 261-275.HussainRBittlesAH.The prevalence and demographic characteristics of consanguineous marriages in PakistanJ Biosoc Sci199830226127510.1017/S00219320980026129746828Search in Google Scholar

20Bittles AH. Consanguinity and its relevance to clinical genetics. Clin Genet. 2001; 60(2): 89-98.BittlesAH.Consanguinity and its relevance to clinical geneticsClin Genet2001602899810.1034/j.1399-0004.2001.600201.x11553039Search in Google Scholar

21Maniatis T, Fritsch EF, Sambrook J. Molecular Cloning: A Laboratory Manual, 2nd ed. Cold Spring Harbor, NY, USA: Cold Spring Harbor Laboratory Press, 1982.ManiatisTFritschEFSambrookJ.Molecular Cloning: A Laboratory Manual2nd edCold Spring Harbor, NY, USACold Spring Harbor Laboratory Press1982Search in Google Scholar

22O’Keefe M, Webb M, Pashby RC, Wagman RD. Clinical anophthalmos. Br J Ophthalmol. 1987; 71(8): 635-638.O’KeefeMWebbMPashbyRCWagmanRD.Clinical anophthalmosBr J Ophthalmol198771863563810.1136/bjo.71.8.63510412473651379Search in Google Scholar

23Brunquell PJ, Papale, JH, Horton JC, Williams RS, Zgrabik MJ, Albert DM, et al. Sex-linked hereditary bilateral anophthalmos. Arch Ophthalmol. 1984; 102(1): 108-113.BrunquellPJPapaleJHHortonJCWilliamsRSZgrabikMJAlbertDMet al.Sex-linked hereditary bilateral anophthalmosArch Ophthalmol1984102110811310.1001/archopht.1984.010400300920446538407Search in Google Scholar

24Fantes JA, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, et al. Mutations in SOX2 cause anophthalmia. Nat Genet. 2003; 33(4): 461-463.FantesJARaggeNKLynchSAMcGillNICollinJRHoward-PeeblesPNet al.Mutations in SOX2 cause anophthalmiaNat Genet200333446146310.1038/ng112012612584Search in Google Scholar

25Stevanovic M, Zuffardi O, Collignon J, Lovell-Badge R, Goodfellow P. The cDNA sequence and chromosomal location of the human SOX2 gene. Mamm Genome. 1994; 5(10): 640-642.StevanovicMZuffardiOCollignonJLovell-BadgeRGoodfellowP.The cDNA sequence and chromosomal location of the human SOX2 geneMamm Genome199451064064210.1007/BF004114607849401Search in Google Scholar

26D’Amour KA, Gage FH. Genetic and functional differences between multipotent neural and pluripotent embryonic stem cells. Proc Natl Acad Sci USA. 2003; 100(Suppl 1): 11866-11872.D’AmourKAGageFH.Genetic and functional differences between multipotent neural and pluripotent embryonic stem cellsProc Natl Acad Sci USA2003100Suppl 1118661187210.1073/pnas.183420010030410012923297Search in Google Scholar

27Ellis P, Fagan BM, Magness S, Hutton S, Taranova O, Hayashi S, et al. SOX2, a persistent marker for multi-potential neural stem cells derived from embryonic stem cells, the embryo or the adult. Dev Neurosci. 2004; 26(2): 148-165.EllisPFaganBMMagnessSHuttonSTaranovaOHayashiSet al.SOX2, a persistent marker for multi-potential neural stem cells derived from embryonic stem cells, the embryo or the adultDev Neurosci200426214816510.1159/00008213415711057Search in Google Scholar

28Ferri ALM, Cavallaro M, Braida D, Di Cristofano A, Canta A, Vezzani A, et al. SOX2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain. Development. 2004; 131(15): 3805-3819.FerriALMCavallaroMBraidaDDi CristofanoACantaAVezzaniAet al.SOX2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brainDevelopment2004131153805381910.1242/dev.0120415240551Search in Google Scholar

29Zenteno JC, Gascon-Guzman G, Tovilla-Canales JL. Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene. (Letter) Clin Genet. 2005; 68(6): 564-566.ZentenoJCGascon-GuzmanGTovilla-CanalesJL.Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene(Letter) Clin Genet200568656456610.1111/j.1399-0004.2005.00518.x16283891Search in Google Scholar

30Ragge, NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, et al. SOX2 anophthalmia syndrome. Am J Med Genet A. 2005; 135(1): 1-7.RaggeNKLorenzBSchneiderABushbyKde SanctisLde SanctisUet al.SOX2 anophthalmia syndromeAm J Med Genet A200513511710.1002/ajmg.a.3064215812812Search in Google Scholar

31Hagstrom SA, Pauer GJT, Reid J, Simpson E, Crowe S, Maumenee IH, et al. SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Am J Med Genet A. 2005; 138(2): 95-98.HagstromSAPauerGJTReidJSimpsonECroweSMaumeneeIHet al.SOX2 mutation causes anophthalmia, hearing loss, and brain anomaliesAm J Med Genet A20051382959810.1002/ajmg.a.3080316145681Search in Google Scholar

32Faivre L, Williamson KA, Faber V, Laurent N, Grimaldi M, Thauvin-Robinet C, et al. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. Am J Med Genet A. 2006; 140(6): 636-639.FaivreLWilliamsonKAFaberVLaurentNGrimaldiMThauvin-RobinetCet al.Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal motherAm J Med Genet A2006140663663910.1002/ajmg.a.3111416470798Search in Google Scholar

33Chassaing N, Gilbert-Dussardier B, Nicot F, Fermeaux V, Encha-Razavi F, Fiorenza M, et al. Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement. Am J Med Genet A. 2007; 143(3): 289-291.ChassaingNGilbert-DussardierBNicotFFermeauxVEncha-RazaviFFiorenzaMet al.Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvementAm J Med Genet A2007143328929110.1002/ajmg.a.3152417219395Search in Google Scholar

34Pedace L, Castori M, Binni F, Pingi A, Grammatico B, Scommegna S, et al. A novel heterozygous SOX2 mutation causing anophthalmia/ microphthalmia with genital anomalies. Eur J Med Genet. 2009; 52(4): 273-276.PedaceLCastoriMBinniFPingiAGrammaticoBScommegnaSet al.A novel heterozygous SOX2 mutation causing anophthalmia/ microphthalmia with genital anomaliesEur J Med Genet200952427327610.1016/j.ejmg.2009.02.00719254784Search in Google Scholar