تقرير
CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase.
| العنوان: | CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase. |
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| المؤلفون: | Grange DK; Department of Pediatrics, Saint Louis University School of Medicine, Missouri, USA. grange@slu.edu, Kratz LE, Braverman NE, Kelley RI |
| المصدر: | American journal of medical genetics [Am J Med Genet] 2000 Feb 14; Vol. 90 (4), pp. 328-35. |
| نوع المنشور: | Case Reports; Letter; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: New York, NY : Wiley-Liss Original Publication: New York, Liss 1977-2002. |
| مواضيع طبية MeSH: | Abnormalities, Multiple/*enzymology, Abnormalities, Multiple/diagnostic imaging ; Abnormalities, Multiple/genetics ; Female ; Humans ; Ichthyosis, X-Linked/enzymology ; Ichthyosis, X-Linked/genetics ; Infant ; Leg/abnormalities ; Point Mutation ; Radiography ; Sterols/blood ; Syndrome |
| مستخلص: | CHILD (congenital hemidysplasia, ichthyosis, and limb defects) syndrome is a rare, usually sporadic disorder associated with unilateral distribution of ichthyosiform skin lesions, limb defects, punctate calcifications of cartilaginous structures, and visceral anomalies. CHILD syndrome shares some manifestations with X-linked dominant Conradi-Hünermann syndrome (CDPX2), although the skeletal defects and skin lesions in CDPX2 are bilateral and asymmetric. Because CDPX2 patients have abnormal 8-dehydrosterol metabolism caused by mutations in 3beta-hydroxysteroid-delta8,delta7-isomerase, we measured plasma sterols in a patient with CHILD syndrome and found levels of 8-dehydrocholesterol and 8(9)-cholestenol increased to the same degree as in CDPX2 patients. Subsequently, we identified a nonsense mutation in exon 3 of the patient's 3beta-hydroxysteroid-delta8,delta7-isomerase gene. We speculate that at least some cases of CHILD syndrome are allelic with CDPX2 caused by 3beta-hydroxysteroid-delta8,delta7-isomerase deficiency. |
| التعليقات: | Comment in: Am J Med Genet. 2000 Feb 14;90(4):336-8. (PMID: 10710234) |
| معلومات مُعتمدة: | HD24061 United States HD NICHD NIH HHS; HD27799 United States HD NICHD NIH HHS |
| المشرفين على المادة: | 0 (Sterols) |
| تواريخ الأحداث: | Date Created: 20000310 Date Completed: 20000414 Latest Revision: 20190905 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1002/(sici)1096-8628(20000214)90:4<328::aid-ajmg13>3.0.co;2-f |
| PMID: | 10710233 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 0148-7299 |
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| DOI: | 10.1002/(sici)1096-8628(20000214)90:4<328::aid-ajmg13>3.0.co;2-f |