1. Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.
- Author
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Almeqdadi M, Kemppainen JL, Pichurin PN, and Gavrilova RH
- Subjects
- Adolescent, Adult, Alopecia diagnosis, Alopecia metabolism, Arrhythmias, Cardiac diagnosis, Arrhythmias, Cardiac metabolism, Basal Ganglia Diseases diagnosis, Basal Ganglia Diseases metabolism, Biological Variation, Population, DNA Mutational Analysis, Diabetes Mellitus diagnosis, Diabetes Mellitus metabolism, Female, Humans, Hypogonadism diagnosis, Hypogonadism metabolism, Intellectual Disability diagnosis, Intellectual Disability metabolism, Magnetic Resonance Imaging, Male, Nuclear Proteins metabolism, Pedigree, Ubiquitin-Protein Ligase Complexes metabolism, Young Adult, Alopecia genetics, Arrhythmias, Cardiac genetics, Basal Ganglia Diseases genetics, Brain pathology, DNA genetics, Diabetes Mellitus genetics, Hypogonadism genetics, Intellectual Disability genetics, Nuclear Proteins genetics, Ubiquitin-Protein Ligase Complexes genetics
- 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.
- Published
- 2018
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