Young Bae Sohn, Su Jin Kim, Sung Won Park, Hyung-Doo Park, Chang-Seok Ki, Chi Hwa Kim, Seung Won Huh, Sunghee Yeau, Kyung-Hoon Paik, Dong-Kyu Jin
Samsung Medical Center.
Republic of Korea
American Journal of Medical Genetics
Am J Med Genet 2010; 152A: 3129-3132
DOI: 10.1002/ajmg.a.33589
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.
Category
Segmental Pulmonary Venous Disease. Without a Focus on Pulmonary Hypertension
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Filed (PHiled). Greater than 1-2 years since publication
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