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MZ Female Twins Discordant For X-Linked Diseases: A Review

Published online by Cambridge University Press:  01 August 2014

G. Tiberio
G. Tiberio*
Affiliation:
Centro Pediatrico Internazionale “Luigi Gedda”, the Gregor Mendel Institute, Rome
*
Centro Pediatrico Internazionale “Luigi Gedda”, the Gregor Mendel Institute, 5 Piazza Galeno, 00162, Roma

Abstract

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The 20 reported cases of MZ female twins discordant for X-linked diseases are reviewed. In such twins the X-inactivation pattern is opposite skewing (abnormal allele inactivated in most cells of the normal twin, and normal allele inactivated in most cells of the affected twin) or skewing in one twin and random in the cotwin. The diseases involved map in two specific regions: Xq27-28 and Xp21. The only exceptions are Fabry's disease and Aicardi's syndrome, which map in Xq22 and Xp22 respectively. No concordant MZ female carrier twins, either normal or affected, have been described. Three main hypotheses have been proposed to explain such characteristics [2, 5, 14], but none is completely satisfactory. The constant discordance for X-linked diseases in MZ female twins has important consequences for genetic counselling.

Keywords

MZ twinsX-linked recessive diseasesDiscordance in MZ twins
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 43 , Issue 3-4 , October 1994 , pp. 207 - 214
Copyright
Copyright © The International Society for Twin Studies 1994

References

REFERENCES

1. Abbadi, N, Philippe, C, Chery, M, Gilgenkrantz, H, Tome, F, Collin, H, Theau, D, Recan, D, Broux, O, Fardeau, M, Kaplan, JC, Gilgenkrantz, S 1994: Additional case of female monozygotic twins discordant for the clinical manifestation of Duchenne muscular dystrophy due to opposite X-chromosome inactivation. Am J Med Genet 52:198–206.CrossRefGoogle ScholarPubMed
2. Burn, J, Povey, S, Boyd, Y, Munro, EA West, L, Harper, K, Thomas, D, 1986: Duchenne museular dystrophy in one monozygotic twin girl. J Med Genet 23:494–500.Google Scholar
3. Chutkow, JG, Hyser, CL, Edwards, JA, Heffner, RR, Czyrny, JJ 1987: Monozygotic female twin carriers discordant for the clinical manifestations of Duchenne muscular dystrophy. Neurology 37:1147–1151.Google Scholar
4. Costa, T, Greer, W, Duckworth-Rysiecki, G, Musarella, M, Ray, P (1990): Monozygotic twins discordant for Aicardi syndrome. Am J Hum Genet 47:A53.Google Scholar
5. Coté, GB, Gyftodimou, J 1991: Twinning and mitotic crossing-over: some possibilities and their implication. Am J Hum Genet 49:120–130.Google Scholar
6. Gomez, MR, Engel, AG, Dewald, GD, Peterson, HA 1977: Failure of inactivation of Duchenne muscular dystrophy X-chromosome in one of female identical twins. Neurology 27:537–541.Google Scholar
7. Jorgensen, AL, Philip, J, Raskind, WH, Matusushita, M, Christensen, B, Dreyer, V, Motulsky, AG 1992: Different patterns of inactivation in MZ twins discordant for red-green color-vision deficiency. Am J Hum Genet 51:291–298.Google Scholar
8. Kitchens, CS 1987: Discordance in a pair of identical twin carriers of factor IX deficiency. Am J Hematol 24:225–228.Google Scholar
9. Koulisher, L, Zanen, J, Meunier, A (1968): La théorie de Lyon peut—elle expliquer la disparité exceptionellement observée de la perception colorée chez les jumelles univitellines? Comptes-rendu du 1er Congrès Internaional de Nuero-génétique et Neuro-opthalmologie. New York: Karger, Basel, pp 242–254.Google Scholar
10. Kruyer, H, Montserrat, M, Glover, G, Carbonell, P, Ballesta, F, Estivili, X 1994: Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins. Am J Hum Genet 54:437–442.Google ScholarPubMed
11. Lubinsky, MS, Hall, JG (1991): Genomic imprinting, monozygous twinning, and X-inactivation. Lancet 337:1288.Google Scholar
12. Lupski, JR, Garcia, CA, Zoghbi, HY, Hoffmann, EP, Fenwick, RG 1991: Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. Am J Med Genet 40:354–364.CrossRefGoogle Scholar
13. Marguery, MC, Giordano, F, Parant, M, Samalens, G, Levade, T, Salvayre, R, Maret, A, Calvas, P, Bourruouillou, G, Cantala, P, Bazex, J (1993): Fabry's disease: heterozygous form of different expression in two monozygous twin sisters Dermatology 187:9–15.Google Scholar
14. Nance, WE (1990): Do twin Lyons have larger spots? Am J Hum Genet 46:646–648.Google Scholar
15. Nettleship, E (1912): Some unusual pedigrees of color blindness. Trans Ophtalmol Soc UK 32:309.Google Scholar
16. Pena, SDJ, Karpati, G, Carpenter, S, Fraser, FC 1987: The clinical consequences of X-chromosome inactivation: Duchenne muscular dystrophy in one of monozygotic twins. J Neurol Sci 79:337–344.Google Scholar
17. Phelan, SDJ, Morton, CC, Swenson, PM, Winter, PM, Nance, WE 1980: Evidence for lyonization of G6PD in a monozygotic twin pair. A J Hum Genet 33:185–195.Google Scholar
18. Philip, J, Vogelius, ACH, Dreyer, V, Freiesleber, E, Gurtler, H, Hauge, M, Kissmeyer-Nielsen, F 1969: Color vision deficiency in one of two presumably monozygotic twins with secondary amenorrhoea. Ann Hum Genet 33:185–195.Google Scholar
19. Révés, T, Schuler, D, Goldschmidt, B, Elodi, S 1972: Christmas Disease in one pair of monozygotic twin girls, possibly the effect of lyonization. J Med Genet 9:397–400.Google Scholar
20. Richards, CS, Hall, JG, Palterman, ML, Nance, WE (1990a): Skewed X?inactivation in normal monozygotic twin pairs. Am J Hum Genet 47:A105.Google Scholar
21. Richards, CS, Watkins, SC, Hoffman, EP, Schneider, NR, Milsark, IW, Katz, KS, Cook, JD (1990b): Skewed X-inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet 46:672–681.Google Scholar
22. Stocks, P, Karn, MN (1993): A biometric investigation of twins and their brothers and sisters. Ann Eugenics 5:17.Google Scholar
23. Therman, E, Kuhn, EM 1981: Mitotic crossing-over and segregation in man. Hum Genet 59:93–100.Google Scholar
24. Tuckerman, E, Twebb, T, Bundey, SE 1985: Frequency and replication status of the fragile X, fra(X) (q27-q28) in a pair of monozygotic twins of markedly differing intelligence. J Med Genet 22:85–91.Google Scholar
25. Walls, GL 1959: Peculiar color blindness in peculiar people. AMA Arch Ophtalmol 62:41–60.Google Scholar
26. Watkiss, E, Webb, T, Rysiecki, G, Girdler, N, Hewett, E, Bundey, S 1994: X inactivation patterns in female monozygotic twins and their families. J Med Genet 31:754–757.Google Scholar
27. Winchester, B, Young, E, Geddes, S, Genet, S, Habel, A, Boyd, Y, Malcom, S (1990): Mucopolysaccharidosis II (Hunter's disease) in a female twin. J Med Genet 27:645.Google Scholar
28. Zneimer, SM, Shneider, NR, Richards, CS 1993: In situ hybridization shows direct evidence of skewed X inactivation in one of monozygotic twin females manifesting Duchenne muscular dystrophy. Am J Med Genet 45:601–605.Google Scholar