Woodhouse-Sakati Syndrome: First report of a Portuguese case

被引:10
|
作者
Louro, Pedro [1 ,2 ,3 ]
Duraes, Joao [1 ]
Oliveira, Diana [1 ]
Paiva, Sandra [1 ]
Ramos, Lina [3 ]
Macario, Maria Carmo [1 ]
机构
[1] Ctr Hosp & Univ Coimbra, Coimbra, Portugal
[2] Inst Portugues Oncol Francisco Gentil, Familial Risk Clin, P-1099023 Lisbon, Portugal
[3] Univ Beira Interior, Fac Hlth Sci, Covilha, Portugal
关键词
alopecia; diabetes mellitus; dystonia; hypogonadism; neurodegeneration with brain iron accumulation; Woodhouse-Sakati syndrome; DIABETES-MELLITUS; NEURODEGENERATION; HYPOGONADISM; ALOPECIA; C2ORF37;
D O I
10.1002/ajmg.a.61303
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 dysphagia. Brain imaging typically reveals iron deposition in the globus pallidus and periventricular leukodystrophy. We report the case of a 31-year-old Portuguese female, the only child of a consanguineous couple. She presented with cognitive impairment, spastic paraparesis, lower limb dystonia, dysarthria, and dysphagia. She also had hypergonadotrophic hypogonadism associated with primary amenorrhea, insulin-dependent diabetes mellitus with retinopathy, primary hypothyroidism, moderate bilateral sensorineural hearing loss, and alopecia. Serial brain magnetic resonance imaging showed a progressive periventricular leukodystrophy with pontine involvement and significant bilateral iron deposition in the globus pallidus, substantia nigra, and red nucleus. The diagnosis of Woodhouse-Sakati Syndrome was eventually proposed and DCAF17 gene sequencing identified a novel likely pathogenic homozygous variant NG_013038.1(NM_025000.3):c.1091+2T>C. Genetic testing allowed a more accurate prognosis and a precise genetic counseling for our patient's family.
引用
收藏
页码:2237 / 2240
页数:4
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