How to Cite this Article: Ben-Omran T, Ali R, Almureikhi M, Alameer S, Al-Saffar M, Walsh CA, Felie JM, Teebi A. 2011. Phenotypic heterogeneity in Woodhouse–Sakati syndrome: Two new families with a mutation in the C2orf37 gene. Am J Med Genet Part A 155: 2647–2653.
Phenotypic heterogeneity in Woodhouse–Sakati syndrome: Two new families with a mutation in the C2orf37 gene†
Article first published online: 30 SEP 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 11, pages 2647–2653, November 2011
How to Cite
Ben-Omran, T., Ali, R., Almureikhi, M., Alameer, S., Al-Saffar, M., Walsh, C. A., Felie, J. M. and Teebi, A. (2011), Phenotypic heterogeneity in Woodhouse–Sakati syndrome: Two new families with a mutation in the C2orf37 gene. Am. J. Med. Genet., 155: 2647–2653. doi: 10.1002/ajmg.a.34219
- Issue published online: 20 OCT 2011
- Article first published online: 30 SEP 2011
- Manuscript Accepted: 27 JUN 2011
- Manuscript Received: 10 OCT 2010
- Woodhouse–Sakati syndrome;
- diabetes mellitus;
- learning disabilities;
- autosomal recessive
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome [also known as Woodhouse–Sakati syndrome (WSS)] is a rare autosomal recessive neuroendocrine and ectodermal disorder. The syndrome was first described by Woodhouse and Sakati in 1983, and 47 patients from 23 families have been reported so far. We report on an additional seven patients (four males and three females) from two highly consanguineous Arab families from Qatar, presenting with a milder phenotype of WSS. These patients show the spectrum of clinical features previously found in WSS, but lack evidence of diabetes mellitus and extrapyramidal symptoms. These two new families further illustrate the natural course and the interfamilial phenotypic variability of WSS that may lead to challenges in making the diagnosis. In addition, our study suggests that WSS may not be as infrequent in the Arab world as previously thought. © 2011 Wiley Periodicals, Inc.