Research & Literature

Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.

Ali RH, Shah K, Nasir A, et al.

Clinical genetics 2016; (90(3)):263-9 doi:10.1111/cge.12700.

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome.

Sheridan MB, Wohler E, Batista DA, et al.

Case reports in genetics 2015; (2015()):169482 doi:10.1155/2015/169482.

Deep Brain Stimulation in Rare Inherited Dystonias.

Beaulieu-Boire I, Aquino CC, Fasano A, et al.

Brain stimulation 2016; (9(6)):905-910 doi:10.1016/j.brs.2016.07.009.

Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.

Almeqdadi M, Kemppainen JL, Pichurin PN, Gavrilova RH

The American journal of case reports 2018; (19()):347-353 doi:10.12659/ajcr.907395.

Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner Syndrome.

Stoyle G, Banka S, Langley C, et al.

Endocrinology, diabetes & metabolism case reports 2018; (2018()) doi:10.1530/EDM-18-0085.

Brain MR Imaging Findings in Woodhouse-Sakati Syndrome.

Abusrair AH, Bohlega S, Al-Semari A, et al.

AJNR. American journal of neuroradiology 2018; (39(12)):2256-2262 doi:10.3174/ajnr.A5879.

Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants - A diagnostic challenge.

Salgado P, Carvalho R, Brandão AF, et al.

eNeurologicalSci 2019; (14()):9-12 doi:10.1016/j.ensci.2018.11.022.

A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17.

Sendur SN, Oguz S, Utine GE, et al.

European journal of medical genetics 2019; (62(8)):103687 doi:10.1016/j.ejmg.2019.103687.

Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene.

Shah K, Jan A, Ahmad F, et al.

Clinical and experimental dermatology 2020; (45(2)):159-164 doi:10.1111/ced.14046.

Woodhouse-Sakati Syndrome: First report of a Portuguese case.

Louro P, Durães J, Oliveira D, et al.

American journal of medical genetics. Part A 2019; (179(11)):2237-2240 doi:10.1002/ajmg.a.61303.

A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature.

Kurnaz E, Türkyılmaz A, Yaralı O, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(11)):1287-1293.

Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.

Bohlega S, Abusrair AH, Al-Ajlan FS, et al.

Parkinsonism & related disorders 2019; (69()):99-103 doi:10.1016/j.parkreldis.2019.10.007.

Wolfram syndrome: clinical and genetic profiling of a cohort from a tertiary care centre with characterization of the primary gonadal failure.

Das L, Rai A, Mavuduru R, et al.

Endocrine 2020; (69(2)):420-429 doi:10.1007/s12020-020-02320-6.

Multimodal Evoked Potential Profiles in Woodhouse-Sakati Syndrome.

Abusrair A, AlHamoud I, Bohlega S

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society 2022; (39(6)):504-509 doi:10.1097/WNP.0000000000000811.

Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.

Ali R, Al-Dewik N, Mohammed S, et al.

American journal of medical genetics. Part A 2022; (188(1)):116-129 doi:10.1002/ajmg.a.62501.

Movement Disorders Associated with Hypogonadism.

Gonzalez-Latapi P, Sousa M, Lang AE

Movement disorders clinical practice 2021; (8(7)):997-1011 doi:10.1002/mdc3.13308.

Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.

Fozia F, Shah K, Nazli R, et al.

Journal of clinical laboratory analysis 2022; (36(1)):e24127 doi:10.1002/jcla.24127.

Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene.

Zhou M, Shi N, Zheng J, et al.

Frontiers in endocrinology 2021; (12()):770871 doi:10.3389/fendo.2021.770871.

Woodhouse-Sakati Syndrome Presenting With Psychotic Features After Starting Trihexyphenidyl: A Case Report.

Aljaffer MA, Almadani AH, AlMutlaq M, et al.

Cureus 2022; (14(8)):e27576 doi:10.7759/cureus.27576.

Radiological Findings of Woodhouse-Sakati Syndrome: Cases Reported From Saudi Arabia.

Alzahrani AM, Alsuwailem LO, Alghoraiby RM, et al.

Cureus 2022; (14(8)):e28540 doi:10.7759/cureus.28540.

Three Siblings With Woodhouse-Sakati Syndrome: A Case Report of A New Saudi Family.

Alhuzaim ON, Ahmad MM, Sherbeeni SM, et al.

Cureus 2022; (14(12)):e32225 doi:10.7759/cureus.32225.

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

Orphanet journal of rare diseases 2023; (18(1)):22 doi:10.1186/s13023-023-02614-8.

Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome.

Lin Y, Chen X, Xie B, et al.

Frontiers in genetics 2023; (14()):1085210 doi:10.3389/fgene.2023.1085210.

Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?

Frontino G, Di Tonno R, Stancampiano MR, et al.

Frontiers in endocrinology 2023; (14()):1155644 doi:10.3389/fendo.2023.1155644.

Neurosensory Affectation in Patients Affected by Wolfram Syndrome: Descriptive and Longitudinal Analysis.

Esteban-Bueno G, Berenguel Hernández AM, Fernández Fernández N, et al.

Healthcare (Basel, Switzerland) 2023; (11(13)) doi:10.3390/healthcare11131888.

Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant.

Amalnath SD, Jothivanan , Oshima J, et al.

American journal of medical genetics. Part A 2024; (194(1)):100-102 doi:10.1002/ajmg.a.63405.

The Successful Management of Primary Amenorrhea in Woodhouse-Sakati Syndrome: A Case Report and a Literature Review.

Bakhsh H, Alqntash N, Almajed E

Life (Basel, Switzerland) 2023; (13(10)) doi:10.3390/life13102022.

Single-cell RNA sequencing reveals the important role of Dcaf17 in spermatogenesis of golden hamsters†.

Ma R, Liang S, Zeng W, et al.

Biology of reproduction 2024; (111(6)):1326-1340 doi:10.1093/biolre/ioae132.

Woodhouse-sakati syndrome with no reportable MRI findings: a case report.

Irvine RE, Ahmad A

BMC neurology 2024; (24(1)):359 doi:10.1186/s12883-024-03865-z.

Clinical Characteristics of KMT2A Gene-Related Wiedemann-Steiner Syndrome and Progress in Recombinant Human Growth Hormone Therapy for Short-Stature Children.

Yue X, Chen M, Ke X, et al.

Clinical endocrinology 2025; (103(5)):692-702 doi:10.1111/cen.15293.

Neurodegeneration with Brain Iron Accumulation.

Schipper DA, Schipper HM

Advances in experimental medicine and biology 2025; (1480()):291-309 doi:10.1007/978-3-031-92033-2_19.

DCAF17 Mutation in Woodhouse-Sakati Syndrome: A Case Report on a Novel Homozygous Variant.

Khalili Dehkordi A, Vakili R

Case reports in pediatrics 2025; (2025()):9913412 doi:10.1155/crpe/9913412.

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Manav Yiğit Z, Mengübaş Erbaş A, Türkyılmaz A, et al.

Balkan medical journal 2026; (43(2)):92-102 doi:10.4274/balkanmedj.galenos.2025.2025-9-81.

Long-Term Outcomes of Deep Brain Stimulation in Woodhouse-Sakati Syndrome.

Alhodaif H, Alkhodair Y, Alotaibi F, et al.

Movement disorders : official journal of the Movement Disorder Society 2026; (41(6)):1427-1433 doi:10.1002/mds.70266.

Consensus Recommendations for the Clinical Management of Wolfram syndrome Using a Delphi Method.

Elliott J, Ahmadi S, Yu-Wai-Man P, et al.

medRxiv : the preprint server for health sciences 2026; doi:10.64898/2026.07.02.26357130.

Clinical and Molecular Findings in Two Siblings with a Novel Homozygous DCAF17 Frameshift Variant and Review of the Literature: A Case Report.

Ay Öner ST, Yılmaz Güleç E

Molecular syndromology 2026; doi:10.1159/000552786.