A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 12, 2010, Pages 3129-3132

  Sohn, Young Bae ^a   Kim, Su Jin ^a   Park, Sung Won ^a   Park, Hyung Doo ^b   Ki, Chang Seok ^b   Kim, Chi Hwa ^a   Huh, Seung Won ^a   Yeau, Sunghee ^c   Paik, Kyung Hoon ^a   Jin, Dong Kyu ^a  

^a Samsung Medical Center   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

^c Ewha Womans University   (South Korea)

Author keywords

Enzyme replacement therapy; Female Hunter syndrome; Genotype; Mucopolysaccharidosis type II; Phenotype

Indexed keywords

ANDROGEN RECEPTOR; GENE PRODUCT; GLYCOSAMINOGLYCAN; IDURONATE 2 SULFATASE; PROTEIN FRAXA; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; CASE REPORT; CLINICAL FEATURE; DNA METHYLATION; ECHOCARDIOGRAPHY; ENZYME ACTIVITY; EXON; FEMALE; FIBROBLAST; GENOTYPE; HEART ATRIUM SEPTUM DEFECT; HEART CATHETERIZATION; HEART MURMUR; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUNTER SYNDROME; INFANT; LEUKOCYTE COUNT; MENTAL DEFICIENCY; MORTALITY; MUTATIONAL ANALYSIS; PHENOTYPE; PNEUMONIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PULMONARY HYPERTENSION; PULMONARY VEIN OBSTRUCTION; URINARY EXCRETION; X CHROMOSOME INACTIVATION;

ADULT; EXONS; FATAL OUTCOME; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; HYPERTENSION; IDURONATE SULFATASE; INFANT; MOTHERS; MUCOPOLYSACCHARIDOSIS II; MUTATION; NUCLEAR FAMILY; PHENOTYPE;

EID: 78649641874     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33589     Document Type: Article

References (10)

1. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. 1992. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51: 1229-1239.
2. Breunig F, Wanner C. 2008. Update on Fabry disease: Kidney involvement, renal progression and enzyme replacement therapy. J Nephrol 21: 32-37.
3. Cudry S, Tigaud I, Froissart R, Bonnet V, Maire I, Bozon D. 2000. MPS II in females: Molecular basis of two different cases. J Med Genet 37: E29.
4. Neufeld EF, Muenzer J. 2001. The mucopolysacharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease, 8th edition. New York: McGraw-Hill. pp 3421-3452.
5. Schluth C, Cossée M, Girard-Lemaire F, Carelle N, Dollfus H, Jeandidier E, Flori E. 2007. Phenotype in X chromosome rearrangements: Pitfalls of X inactivation study. Pathol Biol 55: 29-36.
6. Schmalstieg FC, Leonard WJ, Noguchi M, Berg M, Rudloff HE, Denney RM, Dave SK, Brooks EG, Goldman AS. 1995. Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. J Clin Invest 95: 1169-1173.
7. Sukegawa K, Song XQ, Masuno M, Fukao T, Shimozawa N, Fukuda S, Isogai K, Nishio H, Matsuo M, Tomatsu S, Kondo N, Orii T. 1997. Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying normal allele. Hum Mutat 10: 361367.
8. Sukegawa K, Matsuzaki T, Fukuda S, Masuno M, Fukao T, Kokuryu M, Iwata S, Tomatsu S, Orii T, Kondo N. 1998. Brother/sister siblings affected with Hunter disease: Evidence for skewed X chromosome inactivation. Clin Genet 53: 96-101.
9. Tuschl K, Gal A, Paschke E, Kircher S, Bodamer OA. 2005. Mucopolysaccharidosis type II in females: Case report and review of literature. Pediatr Neurol 32: 270-272.
10. Winchester B, Young E, Geddes S, Genet S, Hurst J, Middleton-Price H, Williams N, Webb M, Habel A, Malcolm S. 1992. Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: A consequence of twinning. Am J Med Genet 44: 834-838.