Logo American Journal of Case Reports

Call: 1.631.629.4328
Mon-Fri 10 am - 2 pm EST

Contact Us

Logo American Journal of Case Reports Logo American Journal of Case Reports Logo American Journal of Case Reports

25 March 2018 : Case report  USA

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

Rare disease

Mohammad Almeqdadi1ABCDEF, Jennifer L. Kemppainen2ABCDEF, Pavel N. Pichurin2DEF, Ralitza H. Gavrilova23ABCDEF*

DOI: 10.12659/AJCR.907395

Am J Case Rep 2018; 19:347-353

Abstract

BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic condition that was first described in 1983. Since its original description, approximately 50 cases have been reported with various clinical signs and symptoms. Characteristics include progressive neurologic deterioration with extrapyramidal involvement and polyendocrinopathy most notable for hypogonadism starting in early adolescence. Clinical presentation is variable, and a subset of patients may have additional features, such as premature aging, alopecia, distinctive facial features, cognitive impairment, or deafness.

CASE REPORT: We illustrate the phenotypic variability of 5 patients with WSS due to the previously reported homozygous single nucleotide deletion c.436delC in the DCAF17 gene, identified in 2008. Despite identical genetic alteration, our 5 patients had various clinical features among them and compared with previously reported cases with the same pathogenic mutation.

CONCLUSIONS: The phenotypic variability of WSS due to c.436delC founder mutation may have a wider range than previously recognized.

Keywords: Alopecia, Dystonic Disorders, Hypogonadism, Leukoencephalopathies

Add Comment 0 Comments

In Press

12 Feb 2024 : Case report  Germany

Diagnostic Challenges and Imaging Considerations for Intraparotid Facial Nerve Schwannoma: A Case Report an...

Am J Case Rep In Press; DOI: 10.12659/AJCR.942870  

0:00

12 Feb 2024 : Case report  USA

Erdheim-Chester Disease Occult on Radiographs and CT but Visible on MRI and PET

Am J Case Rep In Press; DOI: 10.12659/AJCR.941169  

0:00

12 Feb 2024 : Case report  USA

Surgical Treatment of Spontaneous Superficial Temporal Artery Arteriovenous Malformation: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.942839  

13 Feb 2024 : Case report  Bahrain

Warfarin Woes: A Rare Case of Hemoperitoneum with Intramural Small Bowel Hematoma

Am J Case Rep In Press; DOI: 10.12659/AJCR.943519  

Most Viewed Current Articles

10 Jan 2022 : Case report  Germany

A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...

DOI :10.12659/AJCR.935263

Am J Case Rep 2022; 23:e935263

19 Jul 2022 : Case report  Saudi Arabia

Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19

DOI :10.12659/AJCR.936128

Am J Case Rep 2022; 23:e936128

05 Mar 2022 : Case report  Brazil

Acute Limb Ischemia After Self-Injection of Crushed Morphine Tablets into the Radial Artery: Role of Infrar...

DOI :10.12659/AJCR.935336

Am J Case Rep 2022; 23:e935336

02 Apr 2022 : Case report  Saudi Arabia

Infective Endocarditis Caused by Pseudomonas luteola in a Pediatric Patient. A Case Report and Review of Li...

DOI :10.12659/AJCR.935743

Am J Case Rep 2022; 23:e935743

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923