Am J Hum Genet. 1977 Sep;29(5):455-61.

The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?

Neufeld EF, Liebaers I, Epstein CJ, Yatziv S, Milunsky A, Migeon BR.

Abstract

Profound iduronate sulfatase deficiency, characteristic of the Hunter syndrome, has been found in cultured fibroblasts, serum, lymphocytes, and tissues of two 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.

PMID:: 409284; [PubMed - indexed for MEDLINE]
PMCID:: PMC1685419

Free PMC Article

Publication Types, MeSH Terms, Substances

Publication Types

Case Reports

MeSH Terms

Substances

Sulfatases

LinkOut - more resources

Full Text Sources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Medical

Research Materials

Coriell Cell Repositories

Supplemental Content

Save items

Related citations in PubMed

Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl. [Clin Genet. 1990]
Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl.
Clarke JT, Willard HF, Teshima I, Chang PL, Skomorowski MA. Clin Genet. 1990 May; 37(5):355-62.
Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome. [Pediatr Res. 1976]
Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome.
Liebaers I, Neufeld E. Pediatr Res. 1976 Aug; 10(8):733-6.
Review Mucopolysaccharidosis type II in females: case report and review of literature. [Pediatr Neurol. 2005]
Review Mucopolysaccharidosis type II in females: case report and review of literature.
Tuschl K, Gal A, Paschke E, Kircher S, Bodamer OA. Pediatr Neurol. 2005 Apr; 32(4):270-2.
Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes. [Am J Hum Genet. 1978]
Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes.
Yutaka T, Fluharty AL, Stevens RL, Kihara H. Am J Hum Genet. 1978 Nov; 30(6):575-82.
Review Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: a consequence of twinning. [Am J Med Genet. 1992]
Review Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: a consequence of twinning.
Winchester B, Young E, Geddes S, Genet S, Hurst J, Middleton-Price H, Williams N, Webb M, Habel A, Malcolm S. Am J Med Genet. 1992 Dec 1; 44(6):834-8.

See reviews... See all...

Cited by 6 PubMed Central articles

Review Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review. [Orphanet J Rare Dis. 2010]
Review Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.
Pinto LL, Vieira TA, Giugliani R, Schwartz IV. Orphanet J Rare Dis. 2010 May 28; 5:14. Epub 2010 May 28.
Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene. [Arch Dis Child. 1983]
Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene.
Mossman J, Blunt S, Stephens R, Jones EE, Pembrey M. Arch Dis Child. 1983 Nov; 58(11):911-5.
Uniparental disomy as a mechanism for human genetic disease. [Am J Hum Genet. 1988]
Uniparental disomy as a mechanism for human genetic disease.
Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL. Am J Hum Genet. 1988 Feb; 42(2):217-26.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
BioSample
BioSample links
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

The Hunter syndrome in females: is there an autosomal recessive form of iduronat...
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?
Am J Hum Genet. 1977 Sep ;29(5):455-61.

PubMed
Age differences in the effects of contextual framework and word- familiarity on ...
Age differences in the effects of contextual framework and word- familiarity on episodic memory.
Exp Aging Res. 1985 Summer ;11(2):101-3.

PubMed
Retrocaval lymphadenopathy mimicking tumor thrombus in the inferior vena cava.
Retrocaval lymphadenopathy mimicking tumor thrombus in the inferior vena cava.
Comput Radiol. 1985 Nov-Dec ;9(6):373-6.

PubMed
Doppler ultrasonic screening prior to venography for deep venous thrombosis.
Doppler ultrasonic screening prior to venography for deep venous thrombosis.
AJR Am J Roentgenol. 1977 Sep ;129(3):451-2.

PubMed
Arthroscopy of the elbow.
Arthroscopy of the elbow.
Arthroscopy. 1985 ;1(2):97-107.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: