Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome)

Genetic Counseling

Volumn 18, Issue 1, 2007, Pages 49-56

  Chen, Chih Ping ^a,b,c   Lin, S P ^a   Tzen, C Y ^a   Hwu, W L ^d   Chern, S R ^a   Chuang, C K ^a   Chiang, S S ^a   Wang, W ^a  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b ASIA UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Hunter syndrome; Mucopolysaccharide deposition; Mucopolysaccharidosis type II; Prenatal diagnosis; Therapy

Indexed keywords

DERMATAN SULFATE; GLYCOSAMINOGLYCAN; HEPARAN SULFATE; IDURONATE 2 SULFATASE;

ADULT; AMNIOCENTESIS; ARTICLE; CARBOHYDRATE METABOLISM; CARDIOMEGALY; CASE REPORT; ENZYME ACTIVITY; FAMILY HISTORY; FEMALE; FETUS; FETUS ECHOGRAPHY; HEPATOMEGALY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HUNTER SYNDROME; KARYOTYPE 46,XY; MALE; POINT MUTATION; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS;

ABORTED FETUS; ABORTION, INDUCED; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC COUNSELING; GLYCOPROTEINS; GLYCOSAMINOGLYCANS; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS II; MUTATION, MISSENSE; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PRENATAL DIAGNOSIS; ULTRASONOGRAPHY, PRENATAL;

EID: 34247486466     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. ARCHER I.M., KINGSTON H.M., HARPER P.S.: Prenatal diagnosis of Hunter syndrome. Prenat. Diagn., 1984, 4, 195-200.
2. BESLEY G.T.N., BROADHEAD D.M., ELLIS P.M.: First-trimester diagnosis of Hunter syndrome (MPS II). Prenat. Diagn., 1992, 12, 72-73.
3. BRAUN S.E., ARONOVICH E.L., ANDERSON R.A., CROTTY R.L., MCIVOR R.S., WHITLEY C.B.: Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediate gene transfer and expression of human iduronate-2-sulfatase. Proc. Natl. Acad. Sci. USA., 1993. 90, 1183-11834.
4. BUNGE S., STEGLICH C., LORENZ P., BECK M., XU S., HOPWOOD J.J., GAL A.: Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutation. Prenat. Diagn., 1994. 14, 777-780.
5. CHANG J.-H., LIN S.-P., LIN S.-C., TSENG K.-L., LI C.-L., CHUANG C.-K., LEE-CHEN G.-J.: Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II). Hum. Genet., 2005, 116, 160-166.
6. CHUANG C.-K., LIN S.-P., CHUNG S.-F.: Diagnostic screening for mucopolysaccharidoses by the dimethylmethylene blue method and two dimensional electrophoresis. Chin. Med. J. (Taipei), 2001, 64, 15-22.
7. COOPER A., THORNLEY M., WRAITH J.E.: First-trimester diagnosis of Hunter syndrome: very low iduronate sulphatase activity in chorionic villi from a heterozygous female fetus. Prenat. Diagn., 1991, 11, 731-735.
8. CRAWFURD M. D'A., DEAN M.F., HUNT D.M., JOHNSON D.R., MCDONALD R.R., MUIR H., PAYLING WRIGHT E.A., PAYLING WRIGHT C.R.: Early prenatal diagnosis of Hurler's syndrome with termination of pregnancy and confirmatory findings on the fetus. J. Med. Genet., 1973, 10, 144-153.
9. FRATANTONI J.C., NEUFELD E.F., UHLENDORF W.B., JACOBSON C.B.: Intrauterine diagnosis of the Hurler and Hunter syndromes. N. Engl. J. Med., 1969, 280, 686-688.
10. HOPWOOD J.J.: α-L-iduronidase, β-D- glucuronidase, and 2-sulfo-L-iduronate 2-sulfatase: preparation and characterization of radioactive substances from heparin. Carbohydrate Res., 1979, 69, 203-216.
11. KEULEMANS J.L.M., SINIGERSKA I., GARRITSEN V.H., HUIJMANS J.G.M., VOZNYI Y.Y.V., VAN DIGGELEN O.P., KLEIJER W.J.: Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay. Prenat. Diagn., 2002, 22, 1016-1021.
12. KLEIJER W.J., HUIJMANS J.G.M., BLOM W., GORSKA D., KUBALSKA J., WALASEK M., ZAREMBA J.: Prenatal diagnosis of Sanfilippo disease type B. Hum. Genet., 1984, 66, 287-288.
13. KLEIJER W.J., MOOY P.D., LIEBAERS I., VAN DE KAMP J.J.P., NIERMEIJER M.F.: Prenatal monitoring for the Hunter syndrome: the heterozygous female fetus. Clin. Genet., 1979, 15, 113-117.
14. KLEIJER W.J., VAN DIGGELEN O.P., JANSE H.C., GALJAARD H., DUMEZ Y., BOUÉ J.: First trimester diagnosis of Hunter syndrome on chorionic villi. Lancet, 1984, 2, 472.
15. LIEBAERS I., DINATALE P., NEUFELD E.F.: Iduronate sulfatase in amniotic fluid: an aid in the prenatal diagnosis of the Hunter syndrome. J. Pediatr., 1977, 90, 423-425.
16. LISSENS W., VAN LIERDE M., DECALUWE J., FOULON W., EVRARD P., VAN HOOF F., FREUND M., LIEBAERS I.: Prenatal diagnosis of Hunter syndrome using fetal plasma. Prenat. Diagn., 1988, 8, 59-62.
17. LYKKELUND C., SØNDERGAARD F., THERKELSEN A.J., TONNESEN T., RASMUSSEN V., MIKKELSEN M., GUTTLER F., NYLAND M.H.: Feasibility of first trimester prenatal diagnosis of Hunter's syndrome. Lancet, 1983, 2, 1147.
18. MARTIN J.J., CEUTERICK C.: Prenatal pathology in mucopolysaccharidoses: a comparison with postnatal cases. Clin. Neuropathol., 1983, 2, 122-127.
19. MARTIN J.J., CEUTERICK C.: The contribution of pathology to the study of storage disorders. Path. Res. Pract., 1988, 183, 375-385.
20. MCKINNIS E.J.R., SULZBACHER S., RUTLEDGE J.C., SANDERS J., SCOTT C.R.: Bone marrow transplantation in Hunter syndrome. J. Pediatr., 1996, 129, 145-148.
21. MEIER C., WIESMANN U., HERSCHKOWITZ N., BISCHOFF A.: Morphological observations in the nervous system of prenatal mucopolysaccharidosis II (M. Hunter). Acta Neuropathol., 1979, 48, 139-143.
22. MOSSMAN J., PATRICK A.D.: Prenatal diagnosis of mucopolysaccharidosis by two-dimensional electrophoresis of amniotic fluid glycosaminoglycans. Prenat. Diagn., 1982, 2, 169-176.
23. NEUFELD E.F., MUENZER J.: The Mucopolysaccharidoses. Chapter 136 in: The Metabolic & Molecular Bases of Inherited Disease. 8th ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (eds). New York, McGraw-Hill, 2001, 3421-3452.
24. PANNONE N., GATTI R., LOMBARDO C., DI NATALE P.: Prenatal diagnosis of Hunter syndrome using chorionic villi. Prenat. Diagn., 1986, 6, 207-210.
25. RESNICK J.M., KRIVIT W., SNOVER D.C., KERSEY J.H., RAMSAY N.K.C., BLAZAR B.R., WHITLEY C.B.: Pathology of the liver in mucopolysaccharidosis: light and electron microscopic assessment before and after bone marrow transplantation. Bone Marrow Transplant., 1992, 10, 273-280.
26. SAKAI N., SAITO T., HAYASHI Y., HIROI M.: Prenatal diagnosis of Hunter syndrome in a carrier and her twin sisters. Acta Obstet. Gynaec. Jpn., 1996, 48, 65-68.
27. SHAPIRO E.G., LOCKMAN L.A., BALTHAZOR M., KRIVIT W.: Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J. Inherit. Metab. Dis., 1995, 18, 413-429.
28. WIESMANN U.N., SPYCHER M.A., MEIER C., LIEBAERS I., HERSCHKOWITZ N.: Prenatal mucopolysaccharidosis II (Hunter): a pathogenetic study. Pediatr. Res., 1980, 14, 749-756.