Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family

September 2021 in “ Frontiers in genetics ”

Guangmin Chen, Ling Zhou, Qimou Chen, Juan Wang, Peng Jiang, Rufei Shen, Min Long, Huifang Zhou

alopecia hypogonadism DCAF17 gene Woodhouse-Sakati Syndrome genetic testing

Studysummary This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.

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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.

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 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.