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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):3129-32AJ

Abstract

Mucopolysaccharidosis type II (Hunter syndrome) is a lysosomal storage disease caused by a deficiency of iduronate-2-sulfatase. Most reported patients are males because of X-linked recessive inheritance pattern. Only a few female patients with Hunter syndrome have been reported, and there is no prior report of offspring from a patient with Hunter syndrome. In this report, we describe a woman with mild manifestations of Hunter syndrome who gave birth to a daughter. Both the mother and daughter carried the p.R443X mutation in exon 9 of the ID2S gene. Iduronate-2-sulfatase activity in the mother was as low as that found in male Hunter syndrome patients, but it was in the low-normal range in her daughter. Unlike her mother, the daughter did not show any physical signs of Hunter syndrome, and urinary excretion of glycosaminoglycan was within normal range. However, she had severe pulmonary vein stenosis with pulmonary hypertension and a large atrial septal defect and died at 11 months of age.

Authors+Show Affiliations

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

21108396

Citation

Sohn, Young Bae, et al. "A Mother and Daughter With the p.R443X Mutation of Mucopolysaccharidosis Type II: Genotype and Phenotype Analysis." American Journal of Medical Genetics. Part A, vol. 152A, no. 12, 2010, pp. 3129-32.
Sohn YB, Kim SJ, Park SW, et al. 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):3129-32.
Sohn, Y. B., Kim, S. J., Park, S. W., Park, H. D., Ki, C. S., Kim, C. H., ... Jin, D. K. (2010). A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis. American Journal of Medical Genetics. Part A, 152A(12), pp. 3129-32. doi:10.1002/ajmg.a.33589.
Sohn YB, et al. 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):3129-32. PubMed PMID: 21108396.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis. AU - Sohn,Young Bae, AU - Kim,Su Jin, AU - Park,Sung Won, AU - Park,Hyung-Doo, AU - Ki,Chang-Seok, AU - Kim,Chi Hwa, AU - Huh,Seung Won, AU - Yeau,Sunghee, AU - Paik,Kyung-Hoon, AU - Jin,Dong-Kyu, PY - 2010/11/26/entrez PY - 2010/11/26/pubmed PY - 2011/3/16/medline SP - 3129 EP - 32 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 152A IS - 12 N2 - Mucopolysaccharidosis type II (Hunter syndrome) is a lysosomal storage disease caused by a deficiency of iduronate-2-sulfatase. Most reported patients are males because of X-linked recessive inheritance pattern. Only a few female patients with Hunter syndrome have been reported, and there is no prior report of offspring from a patient with Hunter syndrome. In this report, we describe a woman with mild manifestations of Hunter syndrome who gave birth to a daughter. Both the mother and daughter carried the p.R443X mutation in exon 9 of the ID2S gene. Iduronate-2-sulfatase activity in the mother was as low as that found in male Hunter syndrome patients, but it was in the low-normal range in her daughter. Unlike her mother, the daughter did not show any physical signs of Hunter syndrome, and urinary excretion of glycosaminoglycan was within normal range. However, she had severe pulmonary vein stenosis with pulmonary hypertension and a large atrial septal defect and died at 11 months of age. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/21108396/A_mother_and_daughter_with_the_p_R443X_mutation_of_mucopolysaccharidosis_type_II:_Genotype_and_phenotype_analysis_ L2 - https://doi.org/10.1002/ajmg.a.33589 DB - PRIME DP - Unbound Medicine ER -