How to Cite this Article: Chénier S, Noor A, Dupuis L, Stavropoulos DJ, Mendoza-Londono R. 2012. Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2. Am J Med Genet Part A 158A: 2946–2952.
Article first published online: 17 SEP 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Special Issue: SPECIAL ISSUE: GROWTH CHARTS IN GENETIC SYNDROMES
Volume 158A, Issue 11, pages 2946–2952, November 2012
How to Cite
Chénier, S., Noor, A., Dupuis, L., Stavropoulos, D. J. and Mendoza-Londono, R. (2012), Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2. Am. J. Med. Genet., 158A: 2946–2952. doi: 10.1002/ajmg.a.35619
Sébastien Chénier and Abdul Noor contributed equally to this report.
The authors have no conflicts of interest to declare.
- Issue published online: 17 OCT 2012
- Article first published online: 17 SEP 2012
- Manuscript Accepted: 24 JUL 2012
- Manuscript Received: 6 JUN 2012
- osteopatia striata;
- cranial sclerosis;
- developmental delay;
Osteopathia striata with cranial sclerosis (OSCS) is an X-linked disease caused by mutations involving WTX (FAM123B), a tumor suppressor protein with dual functions. OSCS typically affects females whereas males generally have fetal or neonatal lethality. Surviving affected males have characteristic facial dysmorphisms, skeletal features such as macrocephaly and short stature, neurodevelopmental disabilities and a high prevalence of neuromuscular anomalies. On imaging, hemizygous males display marked cranial and peripheral skeletal sclerosis without the metaphyseal striations that are seen in women with OSCS. Observations of striation in males may be indicative of a somatic mosaic mutation in WTX. To date only two cases of surviving males haves been confirmed with mosaic point mutations in WTX. We report on the first case of a male with a mosaic deletion of the entire WTX gene. We show that a mosaic deletion in a hemizygous male patient can cause a mild phenotype of OSCS, including facial and skull base bone striations, nasal stenosis, conductive hearing loss, global developmental delay, and mild facial dysmorphology without short stature or macrocephaly. © 2012 Wiley Periodicals, Inc.