2019
DOI: 10.1002/ajmg.a.61303
|View full text |Cite
|
Sign up to set email alerts
|

Woodhouse–Sakati Syndrome: First report of a Portuguese case

Abstract: Woodhouse-Sakati Syndrome is a very rare autosomal recessive disorder caused by pathogenic variants in the DCAF17 gene, which encodes DDB1-and CUL4-associated factor 17. It is a multisystemic disorder characterized by hypogonadism, adolescent-to young adult-onset diabetes mellitus, hypothyroidism, and alopecia. Neurologic involvement includes childhood-onset moderate bilateral sensorineural hearing loss, mild intellectual disability adolescent-to young adult-onset of extrapyramidal findings, dysarthria, and dy… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1

Citation Types

1
13
0

Year Published

2020
2020
2024
2024

Publication Types

Select...
6

Relationship

0
6

Authors

Journals

citations
Cited by 11 publications
(14 citation statements)
references
References 9 publications
1
13
0
Order By: Relevance
“…Some cases have also been recognized in other areas, such as in Europe, Turkey, India, Pakistan, Portugal, France, and Japan. In 2008, DCAF17, which is located on chromosome 2q31.1, was discovered as the causal gene for WSS by Woodhouse and Sakati (Sheridan et al, 2015;Hdiji et al, 2016;Louro et al, 2019;Sendur et al, 2019;Shah et al, 2020). According to the HGMD database, so far 24 mutations in DCAF17 have been reported in the literature, and 18 are responsible for WSS, as listed in Supplementary Table S1.…”
Section: Introductionmentioning
confidence: 99%
“…Some cases have also been recognized in other areas, such as in Europe, Turkey, India, Pakistan, Portugal, France, and Japan. In 2008, DCAF17, which is located on chromosome 2q31.1, was discovered as the causal gene for WSS by Woodhouse and Sakati (Sheridan et al, 2015;Hdiji et al, 2016;Louro et al, 2019;Sendur et al, 2019;Shah et al, 2020). According to the HGMD database, so far 24 mutations in DCAF17 have been reported in the literature, and 18 are responsible for WSS, as listed in Supplementary Table S1.…”
Section: Introductionmentioning
confidence: 99%
“…Other features are nonenhancing frontoparietal and periventricular white matter changes that can help distinguish WSS from other NBIAs. 1,2 WSS is not the only NBIA associated with endocrinopathy. Aceruloplasminemia is a form of NBIA characterized by DM and a wide range of neurological symptoms.…”
mentioning
confidence: 97%
“…1,2 WSS belongs to the NBIA family, comprising a diverse and heterogenous category of diseases identified with excessive brain (mainly basal ganglia) iron accumulation. 1 The endocrine system is affected in virtually all patients with WSS. 3 The most common findings are hypogonadotropic hypogonadism, alopecia, DM, and primary hypothyroidism.…”
mentioning
confidence: 99%
See 2 more Smart Citations