Abstract | PURPOSE: METHODS: RESULTS: Mutations in the human EBP delta8-delta7-sterol isomerase gene were found in 22 (85%) of 26 females studied, including 20 (91%) of 22 patients who demonstrated an abnormal sterol profile. Thirteen of the mutations have not been reported previously. All of the females in whom mutations were found demonstrated typical skin manifestations of CDPX2, and all but one had a skeletal dysplasia. CONCLUSIONS: Plasma sterol analysis was a highly specific and sensitive indicator of the presence of an EBP mutation in females with suspected CDPX2, including a clinically unaffected mother of a sporadic case. No clear genotype/phenotype correlations were ascertained, probably because phenotypic expression is influenced substantially by the pattern of X-inactivation in an affected female.
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Authors | Gail E Herman, Richard I Kelley, V Pureza, D Smith, Kevin Kopacz, James Pitt, Rebecca Sutphen, Leslie J Sheffield, Aida B Metzenberg |
Journal | Genetics in medicine : official journal of the American College of Medical Genetics
(Genet Med)
2002 Nov-Dec
Vol. 4
Issue 6
Pg. 434-8
ISSN: 1098-3600 [Print] United States |
PMID | 12509714
(Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)
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Topics |
- Chondrodysplasia Punctata
(genetics)
- Chromosomes, Human, X
- DNA Mutational Analysis
- Female
- Genes, Dominant
- Genetic Linkage
- Humans
- Mutation, Missense
- Protein Structure, Secondary
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