Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism

References

• MacDonald AM, Dawson EK. Simple congenital microphthalmia, the record of a bilateral example. Edinb Med J. 1954;61(9):297–304.
   PubMedGoogle Scholar
• Williamson KA, FitzPatrick DR. The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet. 2014;57(8):369–80. doi:10.1016/j.ejmg.2014.05.002.
   PubMed Web of Science ®Google Scholar
• Hu Z, Yu C, Li J, Wang Y, Liu D, Xiang X, Su W, Pan Q, Xie L, Xia K, et al. A novel locus for congenital simple microphthalmia family mapping to 17p12-q12. Invest Ophthalmol Visual Sci. 2011;52(6):3425–29. Published 2011 May 18. doi:10.1167/iovs.10-6747.
   PubMed Web of Science ®Google Scholar
• Jaffe MJ, Currie J, Schwankhaus JD, Sherins RJ. Ophthalmic midline dysgenesis in Kallmann syndrome. Ophthalmic Paediatr Genet. 1987;8(3):171–74. doi:10.3109/13816818709031464.
   PubMed Web of Science ®Google Scholar
• Gopal L, Khan B, Jain S, Prakash VS. A clinical and optical coherence tomography study of the margins of choroidal colobomas. Ophthalmology. 2007;114(3):571–80. doi:10.1016/j.ophtha.2006.06.048.
   PubMed Web of Science ®Google Scholar
• Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JRO, Vivian AJ, Free SL, et al. SOX2 anophthalmia syndrome. Am J Med Genet Part A. 2005;135(1):1–8. doi:10.1002/ajmg.a.30642.
   PubMedGoogle Scholar
• Danno H, Michiue T, Hitachi K, Yukita A, Ishiura S, Asashima M. Molecular links among the causative genes for ocular malformation: otx2 and Sox2 coregulate Rax expression. Proc Natl Acad Sci U S A. 2008;105(14):5408–13. doi:10.1073/pnas.0710954105.
   PubMed Web of Science ®Google Scholar
• Williamson KA, FitzPatrick DR. SOX2-related eye disorders. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle: University of Washington, Seattle; 2006 Feb 23 [Updated 2014 July 31]. p. 1993–2020. https://www.ncbi.nlm.nih.gov/books/NBK1300/.
   Google Scholar
• Johnston JJ, Sanchez-Contreras MY, Keppler-Noreuil KM, Sapp J, Crenshaw M, Finch N, Cormier-Daire V, Rademakers R, Sybert V, Biesecker L, et al. A point mutation in PDGFRB causes autosomal-dominant penttinen syndrome. Am J Hum Genet. 2015;97(3):465‐474. doi:10.1016/j.ajhg.2015.07.009.
   PubMed Web of Science ®Google Scholar
• Kalaskar VK, Alur RP, Li LK, Thomas JW, Sergeev YV, Blain D, Hufnagel RB, Cogliati T, Brooks BP. High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma. Hum Mutat. 2020;41(3):678‐695. doi:10.1002/humu.23954.
   PubMed Web of Science ®Google Scholar
• Prasov L, Guan B, Ullah E, Archer SM, Ayres BM, Besirli CG, Wiinikka-Buesser L, Comer GM, Del Monte MA, Elner SG, et al. Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort. Sci Rep. 2020 Nov 17;10(1):19986. doi:10.1038/s41598-020-76725-8. PMID: 33203948; PMCID: PMC7672112.
   PubMed Web of Science ®Google Scholar
• Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 2015;17(5):405‐424. doi:10.1038/gim.2015.30.
   Web of Science ®Google Scholar
• Abou Tayoun AN, Pesaran T, DiStefano MT, Oza A, Rehm HL, Biesecker LG, Harrison SM. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Hum Mutat. 2018;39(11):1517‐1524. doi:10.1002/humu.23626.
   Web of Science ®Google Scholar
• Hever AM, Williamson KA, van Heyningen V. Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2. Clin Genet. 2006;69(6):459–70. doi:10.1111/j.1399-0004.2006.00619.x.
   PubMed Web of Science ®Google Scholar
• Stevanovic 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):640–42. doi:10.1007/bf00411460.
   PubMed Web of Science ®Google Scholar
• Feng R, Wen J. Overview of the roles of Sox2 in stem cell and development. Biol Chem. 2015;396(8):883–91. doi:10.1515/hsz-2014-0317.
   PubMed Web of Science ®Google Scholar
• Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JRO, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, et al. Mutations in SOX2 cause anophthalmia. Nat Genet. 2003;33(4):461–63. doi:10.1038/ng1120.
   PubMed Web of Science ®Google Scholar
• Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, et al. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol. 2007;91(11):1471–76. doi:10.1136/bjo.2007.117929.
   PubMed Web of Science ®Google Scholar
• Faivre L, Williamson KA, Faber V, Laurent N, Grimaldi M, Thauvin-Robinet C, Durand C, Mugneret F, Gouyon J-B, Bron A, et al. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. Am J Med Genet Part A. 2006;140(6):636–39. doi:10.1002/ajmg.a.31114.
   PubMedGoogle Scholar
• Campbell IM, Shaw CA, Stankiewicz P, Lupski JR. Somatic mosaicism: implications for disease and transmission genetics. Trends Genet. 2015;31(7):382–92. doi:10.1016/j.tig.2015.03.013.
   PubMed Web of Science ®Google Scholar
• Komatsu Y, Mishina Y. Establishment of left–right asymmetry in vertebrate development: the node in mouse embryos. Cell Mol Life Sci. 2013;70(24):4659–66. doi:10.1007/s00018-013-1399-9.
   PubMed Web of Science ®Google Scholar
• Amico S, Smith P, Tobi S, Perry M, Wallace A, Evans DG. Neurofibromatosis type 2 discordance in monozygous twins. Fam Cancer. 2020 Jan;19(1):37–40. doi:10.1007/s10689-019-00148-2. PMID: 31965447.
   PubMed Web of Science ®Google Scholar
• Errichiello E, Gorgone C, Giuliano L, Iadarola B, Cosentino E, Rossato M, Kurtas NE, Delledonne M, Mattina T, Zuffardi O, et al. SOX2: not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant. Eur J Med Genet. 2018;61(6):335–40. doi:10.1016/j.ejmg.2018.01.011.
   PubMed Web of Science ®Google Scholar
• Dennert N, Engels H, Cremer K, Becker J, Wohlleber E, Albrecht B, Ehret JK, Lüdecke H-J, Suri M, Carignani G, et al. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. Am J Med Genet Part A. 2017;173(2):435‐443. doi:10.1002/ajmg.a.38034.
   PubMed Web of Science ®Google Scholar
• Nakamura KM, Diehl NN, Mohney BG. Incidence, ocular findings, and systemic associations of ocular coloboma: a population-based study. Arch Ophthalmol. 2011;129(1):69‐74. doi:10.1001/archophthalmol.2010.320.
   Google Scholar
• Vogt G, Puhó E, Czeizel AE. A population-based case-control study of isolated ocular coloboma. Ophthalmic Epidemiol. 2005;12(3):191‐197. doi:10.1080/09286580590969699.
   PubMed Web of Science ®Google Scholar
• Doane JF, Rickstrew JJ, Tuckfield JQ, Cauble JE. Prevalence of pigment dispersion syndrome in patients seeking refractive surgery. J Glaucoma. 2019;28(5):423–26. doi:10.1097/IJG.0000000000001193.
   PubMed Web of Science ®Google Scholar
• Christen R, Pache M, Teuchner B, Meyer P, Prünte C, Flammer J. Iris transillumination defects in patients with primary open angle glaucoma. Eur J Ophthalmol. 2003;13(4):365–69. doi:10.1177/112067210301300406.
   PubMed Web of Science ®Google Scholar
• Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV. Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. Am J Med Genet Part A. 2009;149A(12):2706–15. doi:10.1002/ajmg.a.33098.
   PubMed Web of Science ®Google Scholar
• Gerth-Kahlert C, Williamson K, Ansari M, Rainger JK, Hingst V, Zimmermann T, Tech S, Guthoff RF, van Heyningen V, FitzPatrick DR, et al. Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. Mol Genet Genomic Med. 2013;1(1):15–31. doi:10.1002/mgg3.2.
   PubMedGoogle Scholar