This is a preview of subscription content, log in via an institution to check access.
References
Alazami A. M., Al-Saif A., Al-Semari A., Bohlega S., Zlitni S., Alzahrani F. et al. 2008 Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am. J. Hum. Genet. 83, 684–691.
Alazami A. M., Schneider S. A., Bonneau D., Pasquier L., Carecchio M., Kojovic M. et al. 2010 C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients. Clin. Genet. 78, 585–590.
Ben-Omran T., Ali R., Almureikhi M., Alameer S., Al-Saffar M., Walsh C. A. et al. 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.
Gregory A. and Hayflick S. J. 2011 Genetics of neurodegeneration with brain iron accumulation. Curr. Neurol. Neurosci. Rep. 11, 254–261.
Gul D., Ozata M., Mergen H., Odabaşi Z. and Mergen M. 2000 Woodhouse and Sakati syndrome (MIM 241080): report of a new patient. Clin. Dysmorphol. 9, 123–125.
Habib R., Basit S., Khan S., Khan M. N. and Ahmad W. 2011 A novel splice site mutation in gene C2orf37 underlying Woodhouse–Sakati syndrome (WSS) in a consanguineous family of Pakistani origin. Gene 490, 26–31.
Koshy G., Danda S., Thomas N., Mathews V. and Viswanathan V. 2008 Three siblings with Woodhouse-Sakati syndrome in an Indian family. Clin. Dysmorphol. 17, 57–60.
Kruer M. C., Boddaert N., Schneider S. A., Houlden H., Bhatia K. P., Gregory A. et al. 2012 Neuroimaging features of neurodegeneration with brain iron accumulation. Am. J. Neuroradiol. 33, 407–414.
Schneider S. A. and Bhatia K. P. 2008 Dystonia in the Woodhouse Sakati syndrome: a new family and literature review. Mov. Disord. 23, 592–596.
Steindl K., Alazami A. M., Bhatia K. P., Wuerfel J. T., Petersen D., Cartolari R. et al. 2010 A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. Clin. Genet. 78, 594–597.
Woodhouse N. J. and Sakati N. A. 1983 A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities. J. Med. Genet. 20, 216–219.
Acknowledgements
We thank the family members for their kind participation, and Fowzan Alkuraya for invaluable assistance.
Author information
Authors and Affiliations
Corresponding author
Additional information
[Abdulla M. C., Alazami A. M., Alungal J., Koya J. M. and Musambil M. 2015 Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse–Sakati syndrome. J. Genet. 94, xx–xx]
Rights and permissions
About this article
Cite this article
ABDULLA, M.C., ALAZAMI, A.M., ALUNGAL, J. et al. Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse–Sakati syndrome. J Genet 94, 489–492 (2015). https://doi.org/10.1007/s12041-015-0544-7
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12041-015-0544-7