Fraser Syndrome: Two millennia of cryptophthalmos from Pliny the Elder to FRAS, FREM and GRIP: A historical perspective
George R. Fraser
Green Templeton College, Oxford, UK.
DOI: 10.4236/ojgen.2013.32A3001   PDF    HTML     4,474 Downloads   7,008 Views   Citations

Abstract

From its first description in antiquity, the place of cryptophthalmos in the history of medical genetics is briefly set out until, in the twentieth century, this rare constellation of multiple congenital malformations of which cryptophthalmos is the most striking, even though not obligatory, component, was identified as an inherited autosomal recessive condition. It was given the name of Fraser syndrome and mutant alleles of the genes FRAS1, FREM2 and GRIP1 were identified as being responsible for a proportion of cases. In the remainder of cases, it may be supposed that mutant alleles of other genes, as yet unidentified, are responsible. In general, this association of multiple disparate malformations in an autosomal recessive condition may be expected to throw light on important aspects of gene action in embryogenesis. An aspect of medical genetics, which has become important with respect to the condition, is antenatal diagnosis with the prospect of abortion of affected fetuses.

Share and Cite:

Fraser, G. (2013) Fraser Syndrome: Two millennia of cryptophthalmos from Pliny the Elder to FRAS, FREM and GRIP: A historical perspective. Open Journal of Genetics, 3, 1-7. doi: 10.4236/ojgen.2013.32A3001.

Conflicts of Interest

The authors declare no conflicts of interest.

References

[1] Gaius Plinius Secundus (Pliny the Elder) (77-79) Naturalis historia.
[2] Zehender, W. and Manz (1872) Eine missgeburt mit hautüberwachsenen augen oder kryptophthalmus. Klinische Monatsblätter für Augenheilkunde, 4, 225-234.
[3] Michel Eyquem de Montaigne (1580) Of a monstrous child. Essays (Second Book, 30).
[4] Golowin, S. (1902) Beiträge zur anatomie und pathogenese des kryptophthalmus congenitus. Zeitschrift für Augenheilkunde, 8,175-212. doi:10.1159/000289955
[5] Avizonis, P. (1928) über kryptophthalmus congenitus. Klinische Monatsblätter für Augenheilkunde, 64, 240-256. doi:10.1159/000296483
[6] Asayama (1906) Vererbung von kryptophthalmus. Klinische Monatsblätter für Augenheilkunde, 44, 346
[7] Down, J.H.L. (1866) Observations on an ethnic classification of idiots. London Hospital Records, 3, 259-262.
[8] Lejeune, J., Gautier, M. and Turpin, R. (1959) Etude des chromosomes somatiques de neuf enfants mongoliens. Comptes Rendus Hebdomadaires des Séances de l’Académie des Sciences (Paris), 248, 1721-1722.
[9] Mendel, G. (1866) Versuche über pflanzen-hybriden. Verhandlungen des Naturforschenden Vereines, Abhandlungen, Brünn, 4, 3-47.
[10] Fraser, G.R. (1962) Our genetical “load”. A review of some aspects of genetical variation. Annals of Human Genetics, 25, 38-414. doi:10.1111/j.1469-1809.1962.tb01774.x
[11] Sinclair, W. (1918) A case of cryptophthalmos. Transactions of the Ophthalmological Society UK, 38, 142-144.
[12] Fraser, G.R. and Friedmann, A.I. (1967) The causes of blindness in childhood. A study of 776 children with severe visual handicaps (with preface by L. S. Penrose). Johns Hopkins Press, Baltimore.
[13] Fraser, G.R. (1976) The causes of profound deafness in childhood. A study of 3535 individuals with severe hearing loss present at birth or of childhood onset (with foreword by V. A. McKusick). Johns Hopkins University Press, Baltimore and London.
[14] Hadorn, E. (1955) Letalfaktoren in ihrer bedeutung für erbpathologie und genphysiologie der entwicklung. Thieme, Stuttgart.
[15] McKusick, V.A. (1966) Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes. Johns Hopkins Press, Baltimore.
[16] Buyse, M.L. (1983) Editorial comment. Journal of Clinical Dysmorphology, 1, 32.
[17] Meinecke, P. (1986) Cryptophthalmos-syndactyly syndrome without cryptophthalmos. Clinical Genetics, 30, 527-528. doi:10.1111/j.1399-0004.1986.tb01923.x
[18] Winter, R.M. (1988) Malformation syndromes: A review of mouse/human homology. Journal of Medical Genetics, 25, 480-487. doi:10.1136/jmg.25.7.480
[19] Winter, R.M. (1990) Fraser syndrome and mouse “bleb” mutants. Clinical Genetics, 37, 494-495. doi:10.1111/j.1399-0004.1990.tb03539.x
[20] Darling, S.M. and Gossler A. (1994) A mouse model for Fraser syndrome. Clinical Dysmorphology, 3, 91-95. doi:10.1097/00019605-199404000-00001
[21] Little, C.C. and Bagg H.J. (1924) The occurrence of four inheritable morphological variations in mice and their possible relationship to treatment with X-rays. Journal of Experimental Zoology, 41, 45-91. doi:10.1002/jez.1400410106
[22] McGregor, L., Makela, V., Darling, S.M., Vrontou, S., Chalepakis, G., Roberts, C., et al. (2003) Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nature Genetics, 34, 203-208. doi:10.1038/ng1142
[23] Vrontou, S., Petrou, P., Meyer, B.I., Galanopoulos, V.K., Imai, K., Yanagi, M., et al. (2003) Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. Nature Genetics, 34, 209-214. doi:/10.1038/ng1168
[24] Pitera, J.E., Scambler, P.J. and Woolf, A.S. (2008) Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli. Human Molecular Genetics, 17, 3953-3964. doi:10.1093/hmg/ddn297
[25] van Haelst, M.M., Maiburg, M, Baujat, G, Jadeja, S, Monti, E., Bland, E., et al. (2008) Molecular study of 33 families with Fraser syndrome: New data and mutation review. American Journal of Medical Genetics Part A, 146A, 2252-2257. doi:10.1002/ajmg.a.32440
[26] Vogel, M.J., van Zon, P., Brueton, L., van Gijzen, M., van Tuil, M.C., Cox, P., et al. (2012) Mutations in GRIP1 cause Fraser syndrome. Journal of Medical Genetics, 49, 303-306. doi:10.1136/jmedgenet-2011-100590
[27] Slavotinek, A.M. and Tifft, C.J. (2002) Fraser syndrome and cryptophthalmos: Review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. Journal of Medical Genetics, 39, 623-633. doi:10.1136/jmg.39.9.623
[28] Smyth, I. and Scambler, P.J. (2005) The genetics of Fraser syndrome and the blebs mouse mutants. Human Molecular Genetics, 14, R269-R274. doi:10.1093/hmg/ddi262
[29] van Haelst, M.M., Scambler, P.J., Fraser Syndrome Collaborative Group and Hennekam, R.C.M. (2007) Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria. American Journal of Medical Genetics Part A, 143A, 3194-3203. doi:10.1002/ajmg.a.31951
[30] Slavotinek, A.M., Baranzini, S.E., Schanze, D., Labelle-Dumais, C., Short, K.M., Chao, R., et al. (2011) toba-oculo-tricho-anal(MOTA) syndrome is caused by mutations in FREM1. Journal of Medical Genetics, 48, 375-382. doi:10.1136/jmg.2011.089631
[31] Kohl, T., Hering, R., Bauriedel, G., van de Vondel. P., Heep, A., Keiner, S., et al. (2006) Percutaneous feto-scopic and ultrasound-guided decompression of the fetal trachea permits normalization of fetal hemodynamics in a human fetus with Fraser syndrome and congenital high airway obstruction syndrome (CHAOS) from laryngeal atresia. Ultrasound in Obstetrics and Gynecology, 27, 84-88. doi:10.1002/uog.1974
[32] Impallomeni, M., Subramanian, D., Mahmood, N. and Illes, J. (2006) Fraser syndrome in a 96-year-old female. Age and Ageing, 35, 642-643. doi:10.1093/ageing/afl109
[33] Yap-Todos, E. and Yap, D. (2007) Michele, Florina, and George Fraser: The cryptophthalmos story at the human level. In: Mayo, O. and Leach, C., Eds., Fifty Years of Human Genetics: A Festschrift and Liber Amicorum to Celebrate the Life and Work of George Robert Fraser. Wakefield Press, Kent Town, 299-308.

Copyright © 2024 by authors and Scientific Research Publishing Inc.

Creative Commons License

This work and the related PDF file are licensed under a Creative Commons Attribution 4.0 International License.