X-linked ichthyosis without STS deficiency: Clinical, genetical, and molecular studies
Journal Article
·
· American Journal of Medical Genetics
- Istituto di Genetica Molecolare del, Trieste (Italy); and others
We report on a Sardinian pedigree with congenital ichthyosis associated with normal levels of steroid sulfatase and a normal molecular pattern, as detectable with a cDNA probe for the steroid sulfatase (STS) gene. Though the pattern of transmission of the disease is consistent with X-linked recessive inheritance, this form of ichthyosis was found to segregate independently of genetic polymorphisms detected by probes of the region Xp22.3, where the STS locus has been mapped. The search for close genetic linkages with other polymorphic markers scattered along the entire X chromosome has so far been fruitless. For the time being, the main conclusion derived from these data is that STS deficiency is not a sine qua non for X-linked ichthyosis which may also result from a mutational event at an X-chromosomal site genetically unlinked to the STS locus. 16 refs., 4 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 443803
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 2 Vol. 59; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
Similar Records
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis
Molecular studies of deletions at the human steroid sulfatase locus
Xp22. 3 deletions in isolated familial Kallmann's syndrome
Journal Article
·
Wed Jul 01 00:00:00 EDT 1987
· Proc. Natl. Acad. Sci. U.S.A.; (United States)
·
OSTI ID:5409296
Molecular studies of deletions at the human steroid sulfatase locus
Journal Article
·
Tue Oct 31 23:00:00 EST 1989
· Proceedings of the National Academy of Sciences of the United States of America; (USA)
·
OSTI ID:6906464
Xp22. 3 deletions in isolated familial Kallmann's syndrome
Journal Article
·
Wed Mar 31 23:00:00 EST 1993
· Journal of Clinical Endocrinology and Metabolism; (United States)
·
OSTI ID:6333241
Related Subjects
55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
CROSSING-OVER
GENE MUTATIONS
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN X CHROMOSOME
METABOLIC DISEASES
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION
PROBES
RECESSIVE MUTATIONS
RFLPS
SKIN DISEASES
STATISTICS
STEROIDS
BASIC STUDIES
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
CROSSING-OVER
GENE MUTATIONS
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN X CHROMOSOME
METABOLIC DISEASES
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION
PROBES
RECESSIVE MUTATIONS
RFLPS
SKIN DISEASES
STATISTICS
STEROIDS