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

• Published in: The American journal of case reports Vol. 19; pp. 347 - 353
• Main Authors: Almeqdadi, Mohammad, Kemppainen, Jennifer L, Pichurin, Pavel N, Gavrilova, Ralitza H
• Format: Journal Article
• Language: English
• Published: United States International Scientific Literature, Inc 25-03-2018
• Subjects: Adolescent; Adult; Alopecia - diagnosis; Alopecia - genetics; Alopecia - metabolism; Arrhythmias, Cardiac - diagnosis; Arrhythmias, Cardiac - genetics; Arrhythmias, Cardiac - metabolism; Basal Ganglia Diseases - diagnosis; Basal Ganglia Diseases - genetics; Basal Ganglia Diseases - metabolism; Biological Variation, Population; Brain - pathology; Diabetes Mellitus - diagnosis; Diabetes Mellitus - genetics; Diabetes Mellitus - metabolism; DNA - genetics; DNA Mutational Analysis; Female; Humans; Hypogonadism - diagnosis; Hypogonadism - genetics; Hypogonadism - metabolism; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Intellectual Disability - metabolism; Magnetic Resonance Imaging; Male; Nuclear Proteins - genetics; Nuclear Proteins - metabolism; Pedigree; Ubiquitin-Protein Ligase Complexes - genetics; Ubiquitin-Protein Ligase Complexes - metabolism; Young Adult
• ISSN: 1941-5923; 1941-5923
• DOI: 10.12659/AJCR.907395

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.