{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T15:59:10Z","timestamp":1779379150064,"version":"3.53.1"},"reference-count":10,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2010,11,24]],"date-time":"2010-11-24T00:00:00Z","timestamp":1290556800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mucopolysaccharidosis type II (Hunter syndrome) is a lysosomal storage disease caused by a deficiency of iduronate\u20102\u2010sulfatase. Most reported patients are males because of X\u2010linked 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 <jats:italic>ID2S<\/jats:italic> gene. Iduronate\u20102\u2010sulfatase activity in the mother was as low as that found in male Hunter syndrome patients, but it was in the low\u2010normal 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. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33589","type":"journal-article","created":{"date-parts":[[2010,12,3]],"date-time":"2010-12-03T13:36:47Z","timestamp":1291383407000},"page":"3129-3132","source":"Crossref","is-referenced-by-count":20,"title":["A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis"],"prefix":"10.1002","volume":"152A","author":[{"given":"Young Bae","family":"Sohn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Su Jin","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung Won","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyung\u2010Doo","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang\u2010Seok","family":"Ki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi Hwa","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seung Won","family":"Huh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunghee","family":"Yeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyung\u2010Hoon","family":"Paik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong\u2010Kyu","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,11,24]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_3_1","first-page":"32","article-title":"Update on Fabry disease: Kidney involvement, renal progression and enzyme replacement therapy","volume":"21","author":"Breunig F","year":"2008","journal-title":"J Nephrol"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.10.e29"},{"key":"e_1_2_5_5_1","first-page":"3421","volume-title":"The metabolic and molecular basis of inherited disease","author":"Neufeld EF","year":"2001"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.patbio.2006.04.003"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117765"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<361::AID-HUMU5>3.0.CO;2-I"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb02654.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2004.10.009"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440625"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33589","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33589","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T04:17:27Z","timestamp":1696997847000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33589"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11,24]]},"references-count":10,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1002\/ajmg.a.33589"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33589","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,24]]}}}