Maternal Uniparental Isodisomy Causing Autosomal Recessive GM1 Gangliosidosis: A Clinical Report

Journal of Genetic Counseling

Volumn 23, Issue 5, 2014, Pages 734-741

  King, Jessica E ^a   Dexter, Amy ^b   Gadi, Inder ^b   Zvereff, Val ^b   Martin, Meaghan ^b   Bloom, Miriam ^a   Vanderver, Adeline ^a   Pizzino, Amy ^a   Schmidt, Johanna L ^a  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^b LABORATORY CORPORATION OF AMERICA   (United States)

Author keywords

Autosomal recessive; GLB1; GM1 gangliosidosis; Isodisomy; Uniparental disomy

Indexed keywords

CASE REPORT; FEMALE; GENETICS; GM1 GANGLIOSIDOSIS; HUMAN; INFANT; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY;

FEMALE; GANGLIOSIDOSIS, GM1; HUMANS; INFANT; POLYMORPHISM, SINGLE NUCLEOTIDE; UNIPARENTAL DISOMY;

EID: 84930008897     PISSN: 10597700     EISSN: 15733599     Source Type: Journal    
DOI: 10.1007/s10897-014-9720-9     Document Type: Article

References (56)

1. Abramowicz, M. J., Andrien, M., Dupont, E., Dorchy, H., Parma, J., Duprez, L., & Vamos, E. (1994). Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. Journal of Clinical Investigation, 94(1), 418–421.
2. Aminoff, A., Gunnar, E., Barbaro, M., Mannila, M. N., Duponchel, C., Tosi, M., & Ehrenborg, E. (2012). Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia. Clinical Genetics, 82(2), 197–200.
3. Anesi, L., de Gemmis, P., Pandolfo, M., & Hladnik, U. (2011). Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS. Journal of Molecular Neuroscience, 43(3), 346–349.
4. Bakker, B., Bikker, H., Hennekam, R. C., Lommen, E. J., Schipper, M. G., Vulsma, T., & de Vijlder, J. J. (2001). Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism. Journal of Clinical Endocrinology & Metabolism, 86(3), 1164–1168.
5. Baskin, B., Geraghty, M., & Ray, P. N. (2010). Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. American Journal of Medical Genetics Part A, 152A(7), 1808–1811.
6. Benko, W. S., Hruska, K. S., Nagan, N., Goker Alpan, O., Hart, P. S., Schiffmann, R., & Sidransky, E. (2008). Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease type 3. [Case reports]. Neurology, 70(12), 976–978.
7. Benlian, P., Foubert, L., Gagne, E., Bernard, L., De Gennes, J. L., Langlois, S., & Hayden, M. (1996). Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency. The American Journal of Human Genetics, 59(2), 431–436.
8. Boisseau, P., Giraud, M., Ternisien, C., Veyradier, A., Fressinaud, E., Lefrancois, A., & Fouassier, M. (2011). An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12. Haematologica, 96(10), 1567–1568.
9. Brzustowicz, L. M., Allitto, B. A., Matseoane, D., Theve, R., Michaud, L., & Chatkupt, S. (1994). Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy. The American Journal of Human Genetics, 54(3), 482–488.
10. Castanet, M., Mallya, U., Agostini, M., Schoenmakers, E., Mitchell, C., Demuth, S., Raymond, F. L., Schwabe, J., Gurnell, M., & Chatterjee, V. K. (2010). Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism. The Journal of Clinical Endocrinology & Metabolism, 95(8), 4031–4036.
11. Castiglia, D., Castori, M., Pisaneschi, E., Sommi, M., Covaciu, C., Zambruno, G., Fischer, J., & Magnani, C. (2009). Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis. Clinical Genetics, 76(4), 392–397.
12. Castori, M., Floriddia, G., Pisaneschi, E., Covaciu, C., Paradisi, M., Torrente, I., & Castiglia, D. (2008). Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa. Journal of Dermatological Science, 51(1), 58–61.
13. Catarzi, S., Giunti, L., Papadia, F., Gabrielli, O., Guerrini, R., Donati, M. A., Genuardi, M., & Morrone, A. (2012). Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16. Molecular Genetics and Metabolism, 105(3), 438–442.
14. Ceballos Picot, I., Guest, G., Moriniere, V., Mockel, L., Daudon, M., Malan, V., Antignac, C., & Heidet, L. (2011). Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency. Clinical Genetics, 80(2), 199–201.
15. Cottrell, C. E., Mendell, J., Hart Kothari, M., Ell, D., Thrush, D. L., Astbury, C., Pastore, M., Gastier Foster, J. M., & Pyatt, R. E. (2012). Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology. Clinical Genetics, 81(6), 578–583.
16. Ding, Q., Ouyang, Q., Xi, X., Wang, X., Shen, Y., & Wang, H. (2012). Maternal chromosome 4 heterodisomy/isodisomy and Bbeta chain Trp323X mutation resulting in severe hypodysfibrinogenaemia. Thrombosis and Haemostasis, 108(4), 654–661.
17. Douglas, G. V., Wiszniewska, J., Lipson, M. H., Witt, D. R., McDowell, T., Sifry Platt, M., Hirano, M., Craigen, W. J., & Wong, L. J. (2011). Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis. Journal of Human Genetics, 56(12), 834–839.
18. Dufourcq Lagelouse, R., Lambert, N., Duval, M., Viot, G., Vilmer, E., Fischer, A., Prieur, M., & de Saint Basile, G. (1999). Chediak-higashi syndrome associated with maternal uniparental isodisomy of chromosome 1. European Journal of Human Genetics, 7(6), 633–637.
19. Engel, E. E. (1995). Uniparentaly disomy: a review of causes and clinical sequelae. [Abstract]. Annual Genetics, 38(3), 113–136.
20. Engel, E. E. (2005). Uniparental disomy revisited: the first twelve years. [Abstract]. American Journal of Medical Genetics, 46(6), 670–674.
21. Eriksson, I., & Nilsson, K. (2008). Preconditions needed for establishing a trusting relationship during health counselling—an interview study. Journal of Clinical Nursing, 17(17), 2352–2359.
22. Fassihi, H., Lu, L., Wessagowit, V., Ozoemena, L. C., Jones, C. A., Dopping Hepensta, P. J., Foster, L., Atherton, D. J., Mellerio, J. E., & McGrath, J. A. (2006). Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities. The Journal of Investigative Dermatology, 126(9), 2039–2043.
23. Fassihi, H., Wessagowit, V., Ashton, G. H., Moss, C., Ward, R., Denyer, J., Mellerio, J. E., & McGrath, J. A. (2005). Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa. Clinical and Experimental Dermatology, 30(1), 71–74.
24. Gelb, B. D., Willner, J. P., Dunn, T. M., Kardon, N. B., Verloes, A., Poncin, J., & Desnick, R. J. (1998). Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. The American Journal of Human Genetics, 62(4), 848–854.
25. Giovannoni, I., Terracciano, A., Gennari, F., David, E., Francalanci, P., & Santorelli, F. M. (2012). Paternal isodisomy of chromosome 2 in a child with bile salt export pump deficiency. Hepatolology Research, 42(3), 327–331.
26. Gumus, H., Ghesquiere, S., Per, H., Kondolot, M., Ichida, K., Poyrazoglu, G., Kumandaş, S., Engelen, J., Dundar, M., & Caglayan, A. O. (2010). Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency. Developmental Medicine & Child Neurology, 52(9), 868–872.
27. Hamvas, A., Nogee, L. M., Wegner, D. J., Depass, K., Christodoulou, J., Bennetts, B., McQuade, L. R., Gray, P. H., Deterdin, R. R., Carroll, T. R., Kammesheidt, A., Kasch, L. M., Kulkami, S., & Cole, F. S. (2009). Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes. The Journal of Pediatrics, 155(6), 854–859. e851.
28. Haudry, C., de Lonlay, P., Malan, V., Bole Feysot, C., Assouline, Z., Pruvost, S., Brassier, A., Bonnefont, J. P., Munnich, A., Rötig, A., & Lebre, A. S. (2012). Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. Molecular Genetics and Metabolism, 107(4), 700–704.
29. Huang, Y. H., Tai, C. L., Lu, Y. H., Wu, T. J., Chen, H. D., & Niu, D. M. (2012). Recessive congenital methemoglobinemia caused by a rare mechanism: maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22. Blood Cells, Molecules, and Diseases, 49(2), 114–117.
30. James, C. A., Hadley, D. W., Holtzman, N. A., & Winkelstein, J. A. (2006). How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, sigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases. Genetics in Medicine, 8(4), 234–242.
31. Kay, E., & Kingston, H. (2002). Feelings associated with being a carrier and characteristics of reproductive decision making in women known to be carriers of X-linked conditions. Journal of Health Psychology, 7(2), 169–181.
32. Kessler, S., Kessler, H., & Ward, P. (1984). Psychological aspects of genetic counseling. III. Management of guilt and shame. American Journal of Medical Genetics, 17, 673–697.
33. Le Caignec, C., Isidor de Pontbriand, U., David, V., Audrezet, M. P., Ferec, C., & David, A. (2007). Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a new patient presenting with normal growth. American Journal of Medical Genetics Part A, 143A(22), 2696–2699.
34. Lebre, A. S., Moriniere, V., Dunand, O., Bensman, A., Morichon Delvallez, N., & Antignac, C. (2009). Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis. European Journal of Human Genetics, 17(8), 1019–1023.
35. Lehmann, A., Speight, B. S., & Kerzin-Storrar, L. (2011). Extending family impact of genetic testing: the experiences of X-linked carrier grandmothers. Journal of Genetic Counseling, 20, 365–373.
36. Leiken, S. (1995). First, do no harm. Ethical behavior, 5(2), 193–194. 196–199.
37. Lopez Garrido, M. P., Campos Mollo, E., Harto, M. A., & Escribano, J. (2009). Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2. Clinical Genetics, 76(6), 552–557.
38. Lucassen, A., & Parker, M. (2001). Revealing false paternity: some ethical considerations. Lancet, 357(9261), 1033.
39. Matejas, V., Muscheites, J., Wigger, M., Kreutzer, H. J., Nizze, H., & Zenker, M. (2011). Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities. American Journal of Medical Genetics Part A, 155A(10), 2601–2604.
40. Miura, Y., Hiura, M., Torigoe, K., Numata, O., Kuwahara, A., Matsunaga, M., Hasegawa, S., Boku, N., Ino, H., Mardy, S., Endo, F., Matsuda, I., & Indo, Y. (2000). Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis. Human Genetics, 107(3), 205–209.
41. Natsuga, K., Nishie, W., Arita, K., Shinkuma, S., Nakamura, H., Kubota, S., Imakado, S., Akiyama, M., & Shimizu, H. (2010). Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia. Journal of Investigative Dermatology, 130(11), 2671–2674.
42. Niida, Y., Kuroda, M., Mitani, Y., Yokoi, A., & Ozaki, M. (2012). Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy. Journal of Human Genetics, 57(10), 687–690.
43. Nimmo, G., Monsonego, S., Descartes, M., Franklin, J., Steinberg, S., & Braverman, N. (2010). Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1. American Journal of Medical Genetics Part A, 152A(7), 1812–1817.
44. Nussbaum, R., McInnes, R. R., & Willard, H. F. (2007). Thompson & Thompson Genetics In Medicine. Philadelphia, PA: Saunderes Elsevier.
45. Quan, F., Janas, J., Toth Fejel, S., Johnson, D. B., Wolford, J. K., & Popovich, B. W. (1997). Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. The American Journal of Human Genetics, 60(1), 160–165.
46. Riveiro Alvarez, R., Valverde, D., Lorda Sanchez, I., Trujillo Tiebas, M. J., Cantalapiedra, D., Vallespin, E., Aguirre Lamban, J., Ramos, C., & Ayuso, C. (2007). Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease. Molecular Vision, 13, 96–101.
47. Rivolta, C., Berson, E. L., & Dryja, T. P. (2002). Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. Archives of Ophthalmology, 120(11), 1566–1571.
48. Roberts, J. L., Buckley, R. H., Luo, B., Pei, J., Lapidus, A., Peri, S., Wei, Q., Shin, J., Parrott, R. E., Dunbrack, R. L., Jr., Testa, J. R., Zhong, X. P., & Wiest, D. L. (2012). CD45-deficient severe combined immunodeficiency caused by uniparental disomy. Proceedings of the National Academy of Science of the United States of America, 109(26), 10456–10461.
49. Ross, L. F. (1996). Disclosing misattributed paternity. Bioethics, 10(2), 114–130.
50. Sasaki, K., Okamoto, N., Kosaki, K., Yorifuji, T., Shimokawa, O., Mishima, H., Yoshiura, K. I., & Harada, N. (2011). Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3 M syndrome. Clinical Genetics, 80(5), 478–483.
51. Schejbel, L., Schmidt, I. M., Kirchhoff, M., Andersen, C. B., Marquart, H. V., Zipfel, P., & Garred, P. (2011). Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation. Genes and Immunity, 12(2), 90–99.
52. Spence, J. E., Perciaccante, R. G., Greig, G. M., Willard, H. F., Ledbetter, D. H., Hejtmancik, J. F., Pollack, M. S., O’Brien, W. E., & Beaudet, A. L. (1988). Uniparental disomy as a mechanism for human genetic disease. American Journal of Human Genetics, 42(2), 217–226.
53. Stratchan, T., & Read, A. P. (2001). Human molecular genetics 2. New York: Wiley.
54. Sulisalo, T., Makiti, O., Sistonen, P., Ridanpaa, M., el Rifai, W., Ruuskanen, O., de la Chapelle, A., & Kaitila, I. (1997). Uniparental disomy in cartilage-hair hypoplasia. European Journal of Human Genetics, 5(1), 35–42.
55. Thompson, D. A., McHenry, C. L., Li, Y., Richards, J. E., Othman, M. I., Schwinger, E., Vollrath, D., Jacobson, S. G., & Gal, A. (2002). Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. American Journal of Human Genetics, 70(1), 224–229.
56. Turner, C. L., Bunyan, D. J., Thomas, N. S., Mackay, D. J., Jones, H. P., Waterham, H. R., Wanders, R. J., & Temple, I. K. (2007). Zellweger syndrome resulting from maternal isodisomy of chromosome 1. American Journal of Medical Genetics Part A, 143A(18), 2172–2177.