Phenotypic variability of C.436delC DCAF17 gene mutation in woodhouse-Sakati syndrome

Mohammad Almeqdadi, Jennifer L. Kemppainen, Pavel N. Pichurin, Ralitza M Gavrilova

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Objective: Rare disease 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.

Original languageEnglish (US)
Pages (from-to)347-353
Number of pages7
JournalAmerican Journal of Case Reports
Volume19
DOIs
StatePublished - Mar 25 2018

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Mutation
Genes
Premature Aging
Recessive Genes
Hypogonadism
Alopecia
Deafness
Rare Diseases
Nervous System
Signs and Symptoms
Nucleotides
Woodhouse Sakati syndrome
Cognitive Dysfunction

Keywords

  • Alopecia
  • Dystonic disorders
  • Hypogonadism
  • Leukoencephalopathies

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Phenotypic variability of C.436delC DCAF17 gene mutation in woodhouse-Sakati syndrome. / Almeqdadi, Mohammad; Kemppainen, Jennifer L.; Pichurin, Pavel N.; Gavrilova, Ralitza M.

In: American Journal of Case Reports, Vol. 19, 25.03.2018, p. 347-353.

Research output: Contribution to journalArticle

Almeqdadi, Mohammad ; Kemppainen, Jennifer L. ; Pichurin, Pavel N. ; Gavrilova, Ralitza M. / Phenotypic variability of C.436delC DCAF17 gene mutation in woodhouse-Sakati syndrome. In: American Journal of Case Reports. 2018 ; Vol. 19. pp. 347-353.
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