HUNTER SYNDROME IN FEMALES - THERE AN AUTOSOMAL RECESSIVE FORM OF IDURONATE SULFATASE DEFICIENCY
- 1 January 1977
- journal article
- research article
- Vol. 29 (5) , 455-461
Abstract
Profound iduronate sulfatase deficiency, characteristic of the Hunter syndrome, was found in cultured fibroblasts, serum, lymphocytes, and tissues of 2 clinically affected girls. The patients are karyotypically normal and have normal fathers; cloning of the mothers'' fibroblasts did not reveal the mosaicism expected of carriers of an X-linked disease. Homozygosity for a previously unsuspected autosomal recessive gene for iduronate sulfatase is considered the most likely explanation, although heterozygosity for the X-linked gene and subsequent selection cannot be completely excluded.This publication has 13 references indexed in Scilit:
- Iduronate sulfatase in amniotic fluid: An aid in the prenatal diagnosis of the Hunter syndromeThe Journal of Pediatrics, 1977
- X-LINKED HUNTER SYNDROME - HETEROZYGOUS PHENOTYPE IN CELL-CULTURE1977
- Inherited Disorders of Lysosomal MetabolismAnnual Review of Biochemistry, 1975
- Demonstration of the heterozygous state in Hunter's syndrome.1974
- The Defect in the Hunter Syndrome: Deficiency of Sulfoiduronate SulfataseProceedings of the National Academy of Sciences, 1973
- Hunter syndrome in girl.1973
- Risk of Recurrence and Carrier Frequency for X-Linked Lethal RecessivesHuman Heredity, 1973
- Relative Frequency of the Hurler and Hunter SyndromesNew England Journal of Medicine, 1971
- Hurler and Hunter Syndromes: Mutual Correction of the Defect in Cultured FibroblastsScience, 1968