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Glossary Woodhouse-Sakati syndrome

rare genetic disorder causing hair loss, diabetes, and other symptoms

Woodhouse-Sakati syndrome is a rare genetic disorder characterized by a combination of symptoms including hair loss (alopecia), diabetes, hearing loss, intellectual disability, and hypogonadism (underdeveloped sex organs). It is caused by mutations in the DCAF17 gene and is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations.

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research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients

43 citations , April 2010 in “Clinical genetics”

This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.

research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature

31 citations , January 2014 in “Journal of endocrinological investigation”

This study reviewed Woodhouse-Sakati syndrome and found it consistently associated with hypogonadism, decreased IGF1, and frontotemporal alopecia, with additional symptoms like intellectual disabilities and diabetes in some patients.

research 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

10 citations , September 2021 in “American Journal of Medical Genetics Part A”

This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.

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

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

7 citations , January 2015 in “Case reports in genetics”

This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.

Woodhouse-Sakati Syndrome: A Case Study of Three Saudi Sisters

research Woodhouse-Sakati syndrome (WSS)

5 citations , November 2021 in “Saudi medical journal”

This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.

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