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Multimodal Evoked Potential Profiles in Woodhouse-Sakati Syndrome.
Abusrair A, AlHamoud I, Bohlega S. Abusrair A, et al. J Clin Neurophysiol. 2022 Sep 1;39(6):504-509. doi: 10.1097/WNP.0000000000000811. Epub 2020 Dec 30. J Clin Neurophysiol. 2022. PMID: 33417382
Here, we report electrophysiologic profiles in Woodhouse-Sakati syndrome and their possible value in understanding disease pathophysiology and phenotypic variability. ...Five patients with hearing impairment presented with normal brainstem auditory EP results …
Here, we report electrophysiologic profiles in Woodhouse-Sakati syndrome and their possible value in understanding dise …
Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review.
Kohil A, Abdallah AM, Hussain K, Al-Shafai M. Kohil A, et al. Orphanet J Rare Dis. 2023 Jan 31;18(1):22. doi: 10.1186/s13023-023-02614-8. Orphanet J Rare Dis. 2023. PMID: 36721231 Free PMC article. Review.
BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical manifestations mainly affecting the endocrine and nervous systems. ...Additional studies are now needed to understand the genotype-phenotype cor …
BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical mani …
Brain MR Imaging Findings in Woodhouse-Sakati Syndrome.
Abusrair AH, Bohlega S, Al-Semari A, Al-Ajlan FS, Al-Ahmadi K, Mohamed B, AlDakheel A. Abusrair AH, et al. AJNR Am J Neuroradiol. 2018 Dec;39(12):2256-2262. doi: 10.3174/ajnr.A5879. Epub 2018 Nov 8. AJNR Am J Neuroradiol. 2018. PMID: 30409855 Free PMC article.
BACKGROUND AND PURPOSE: Woodhouse-Sakati syndrome is a rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, and progressive extrapyramidal signs. ...The purpose of this study was to describe the spectrum of brain MR im …
BACKGROUND AND PURPOSE: Woodhouse-Sakati syndrome is a rare autosomal recessive disorder characterized by hypogonadism, …
Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.
Fozia F, Shah K, Nazli R, Khan SA, Ahmad I, Mohammad N, Khan S, Alotaibi A. Fozia F, et al. J Clin Lab Anal. 2022 Jan;36(1):e24127. doi: 10.1002/jcla.24127. Epub 2021 Dec 8. J Clin Lab Anal. 2022. PMID: 34877714 Free PMC article.
BACKGROUND: Woodhouse-Sakati syndrome is a rare autosomal recessive disease with endocrine and neuroectodermal aberrations with heterogeneous phenotypes and disease course. ...METHOD: Here, we reported a large consanguineous pedigree with multiple affected in …
BACKGROUND: Woodhouse-Sakati syndrome is a rare autosomal recessive disease with endocrine and neuroectodermal aberrati …
Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene.
Shah K, Jan A, Ahmad F, Basit S, Ramzan K, Ahmad W. Shah K, et al. Clin Exp Dermatol. 2020 Mar;45(2):159-164. doi: 10.1111/ced.14046. Epub 2019 Aug 28. Clin Exp Dermatol. 2020. PMID: 31323129
BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare neuroendocrine and ectodermal disorder inherited in an autosomal recessive pattern. ...RESULTS: Analysis of the exome data revealed a start loss sequence variant (c.1A>G, p.M1?) in DCAF17. CONCLUSION: T …
BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare neuroendocrine and ectodermal disorder inherited in an autosomal …
Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome.
Kumari R, Holla VV, Phulpagar P, Sriram N, Hegde AG, Vengalil S, Kamble N, Saini J, Yadav R, Pal PK, Muthusamy B. Kumari R, et al. J Neuroendocrinol. 2022 Oct;34(10):e13185. doi: 10.1111/jne.13185. Epub 2022 Jul 25. J Neuroendocrinol. 2022. PMID: 35876063
Woodhouse-Sakati syndrome (WSS) is an extremely rare multisystemic disorder with neuroendocrine dysfunctions. ...Transcript analysis revealed splicing ablation resulting in aberrant splicing of exons 3 and 5 and skipping of exon 4 (c.322_458del). This results …
Woodhouse-Sakati syndrome (WSS) is an extremely rare multisystemic disorder with neuroendocrine dysfunctions. ...Transc …
The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I, Kramberger M, Carecchio M, Alazami AM, Brancati F, Slawek J, Pirtosek Z, Valente EM, Alkuraya FS, Edwards MJ, Bhatia KP. Kojovic M, et al. Mov Disord. 2013 Jun;28(6):795-803. doi: 10.1002/mds.25394. Epub 2013 Feb 15. Mov Disord. 2013. PMID: 23418071
The syndrome of deafness-dystonia is rare and refers to the association of hearing impairment and dystonia when these are dominant features of a disease. Known genetic causes include Mohr-Tranebjaerg syndrome, Woodhouse-Sakati syndrome, and mitochondrial diso …
The syndrome of deafness-dystonia is rare and refers to the association of hearing impairment and dystonia when these are dominant features …
Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene.
Nanda A, Pasternack SM, Mahmoudi H, Ishorst N, Grimalt R, Betz RC. Nanda A, et al. Pediatr Dermatol. 2014 Jan-Feb;31(1):83-7. doi: 10.1111/pde.12219. Epub 2013 Sep 9. Pediatr Dermatol. 2014. PMID: 24015686
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, intellectual disability, sensorineural deafness, extrapyramidal signs, and low insulinlike growth factor 1 levels. ...This famil …
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabete …
Deep Brain Stimulation in Rare Inherited Dystonias.
Beaulieu-Boire I, Aquino CC, Fasano A, Poon YY, Fallis M, Lang AE, Hodaie M, Kalia SK, Lozano A, Moro E. Beaulieu-Boire I, et al. Brain Stimul. 2016 Nov-Dec;9(6):905-910. doi: 10.1016/j.brs.2016.07.009. Epub 2016 Oct 4. Brain Stimul. 2016. PMID: 27743838
METHODS: Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic aciduria, neuronal ceroid lipofuscinosis, spinocerebellar ataxia types 2 and 3, Wilson's disease, Woodhouse …
METHODS: Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemal …
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS. Alazami AM, et al. Am J Hum Genet. 2008 Dec;83(6):684-91. doi: 10.1016/j.ajhg.2008.10.018. Epub 2008 Nov 20. Am J Hum Genet. 2008. PMID: 19026396 Free PMC article.
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (also referenced as Woodhouse-Sakati syndrome) is a rare autosomal recessive multisystemic disorder. ...The gene encodes a nucleolar protein of unknown function, and th …
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (also referenced as Woodhouse-Sakati …