Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation

European Journal of Medical Genetics

Volumn 56, Issue 3, 2013, Pages 159-162

  Piña Aguilar, Raul E ^a   Zaragoza Arévalo, Gerardo R ^a   Rau, Isabella ^b   Gal, Andreas ^b   Alcántara Ortigoza, Miguel A ^c   López Martínez, Mónica S ^a   Santillán Hernández, Yuritzi ^a  

^a INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

Author keywords

Elaprase ; Hunter syndrome; Iduronate 2 sulfatase; Mexico; MPSII; X linked disease

Indexed keywords

IDURONATE 2 SULFATASE;

ANTEVERTED NOSTRIL; ARTICLE; BLOOD SMEAR; CASE REPORT; CHROMOSOME ANALYSIS; CONTRACTURE; ENZYME ACTIVITY; ENZYME REPLACEMENT; EYEBROW; FACIES; FEMALE; GENE MUTATION; HEPATOSPLENOMEGALY; HETEROZYGOTE; HUMAN; HUNTER SYNDROME; KARYOTYPE 46,XX; KYPHOSIS; LYMPHOCYTE; MACROCEPHALY; MONOCYTE; NOSE MALFORMATION; PERIPHERAL LYMPHOCYTE; RECURRENT INFECTION; RESPIRATORY DISTRESS; RESPIRATORY TRACT INFECTION; UMBILICAL HERNIA; X CHROMOSOME INACTIVATION;

CHILD, PRESCHOOL; EXONS; FEMALE; HETEROZYGOTE; HUMANS; IDURONATE SULFATASE; MUCOPOLYSACCHARIDOSIS II; MUTATION; RECEPTORS, ANDROGEN; X CHROMOSOME INACTIVATION;

EID: 84874314465     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.11.006     Document Type: Article

References (20)

1. Beck M. Mucopolysaccharidosis type II (Hunter syndrome): clinical picture and treatment. Curr. Pharm. Biotechnol. 2011, 12(6):861-866.
2. Martin R., Beck M., Eng C., Giugliani R., Harmatz P., Muñoz V., Muenzer J. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 2008, 121(2):e377-e386.
3. Tuschl K., Gal A., Paschke E., Kircher S., Bodamer O.A. Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr. Neurol. 2005, 32(4):270-272.
4. Neufeld E.F., Liebaers I., Epstein C.J., Yatziv S., Milunsky A., Migeon B.R. The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?. Am. J. Hum. Genet. 1977, 29(5):455-461.
5. Sohn Y.B., Kim S.J., Park S.W., Park H.D., Ki C.S., Kim C.H., Huh S.W., Yeau S., Paik K.H., Jin D.K. A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: genotype and phenotype analysis. Am. J. Med. Genet. A 2010, 152A(12):3129-3132.
6. Schwartz I.V., Pinto L.L., Breda G., Lima L., Ribeiro M.G., Mota J.G., Acosta A.X., Correia P., Horovitz D.D., Porciuncula C.G., Lipinski-Figueiredo E., Fett-Conte A.C., Sobrinho R.P., Norato D.Y., Paula A.C., Kim C.A., Duarte A.R., Boy R., Leistner-Segal S., Burin M.G., Giugliani R. Clinical and biochemical studies in mucopolysaccharidosis type II carriers. J. Inherit. Metab. Dis. 2009, 32(6):732-738.
7. de Camargo Pinto L.L., Maluf S.W., Leistner-Segal S., Zimmer da Silva C., Brusius-Facchin A., Burin M.G., Brustolin S., Llerena J., Moraes L., Vedolin L., Schuch A., Giugliani R., Schwartz I.V. Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations. Am. J. Med. Genet. A 2011, 155A(1):50-57.
8. Kloska A., Jakóbkiewicz-Banecka J., Tylki-Szymańska A., Czartoryska B., Wegrzyn G. Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders. Clin. Genet. 2011, 80(5):459-465.
9. Froissart R., Maire I., Bonnet V., Levade T., Bozon D. Germline and somatic mosaicism in a female carrier of Hunter disease. J. Med. Genet. 1997, 34(2):137-140.
10. Mossman J., Blunt S., Stephens R., Jones E.E., Pembrey M. Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene. Arch. Dis. Child. 1983, 58(11):911-915.
11. Broadhead D.M., Kirk J.M., Burt A.J., Gupta V., Ellis P.M., Besley G.T. Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation. Clin. Genet. 1986, 30:392-398.
12. Clarke J.T.R., Willard H.F., Teshima I., Chang P.L., Skomorowski M.A. Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl. Clin. Genet. 1990, 37:355-362.
13. Clarke J.T., Greer W.L., Strasberg P.M., Pearce R.D., Skomorowski M.A., Ray P.N. Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl. Am. J. Hum. Genet. 1991, 49(2):289-297.
14. Winchester B., Young E., Geddes S., Genet S., Hurst J., Middelton-Price H., Williams N., Webb M., Habel A., Malcolm S. Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: a consequence of twinning. Am. J. Med. Genet. 1992, 44:834-838.
15. Sukegawa K., Song X.Q., Masuno M., Fukao T., Shimozawa N., Fukuda S., Isogai K., Nishio H., Matsuo M., Tomatsu S., Kondo N., Orii T. Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele. Hum. Mutat. 1997, 10(5):361-367.
16. Sukegawa K., Matsuzaki T., Fukuda S., Masuno M., Fukao T., Kokuryu M., Iwata S., Tomatsu S., Orii T., Kondo N. Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation. Clin. Genet. 1998, 53(2):96-101.
17. Cudry S., Tigaud I., Froissart R., Bonnet V., Maire I., Bozon D. MPS II in females: molecular basis of two different cases. J. Med. Genet. 2000, 37(10):E29.
18. Manara R., Rampazzo A., Cananzi M., Salviati L., Mardari R., Drigo P., Tomanin R., Gasparotto N., Priante E., Scarpa M. Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution. J. Inherit. Metab. Dis. 2010 Jan 6, (Epub ahead of print).
19. Jurecka A., Krumina Z., Zuber Z., Ródzyńska-Światkowska A., Kłoska A., Czartoryska B., Tylki-Szymańska A. Mucopolysaccharidosis type II in females and response to enzyme replacement therapy. Am. J. Med. Genet. A 2012, 158A(2):450-454.
20. Zhang H., Li J., Zhang X., Wang Y., Qiu W., Ye J., Han L., Gao X., Gu X. Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G > A (p.Gln293Gln) synonymous variation in a female create exonic splicing. PLoS ONE 2011, 6(8):e22951.