Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation
Journal of Movement Disorders
;
: 120-123, 2016.
Article
Dans Anglais
| WPRIM
| ID: wpr-55648
ABSTRACT
Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited neurodegenerative disorders characterized iron accumulation in the brain, and it is caused by mutations of the C2orf37 gene. We report the first Tunisian family with two affected sisters presenting with a phenotype suggestive of WSS. We examined the index patient presenting with movement disorders and mental retardation and then searched for similar cases in her family, which identified a sister with similar signs. We performed a genetic study that confirmed the diagnosis and revealed a c.436delC mutation of the C2orf37 gene. Therefore, WSS is an important consideration in patients presenting with movement disorders and intellectual disability. A high consanguinity contributes to the clustering of such rare autosomal recessive syndromes.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Phénotype
/
Encéphale
/
Consanguinité
/
Maladies neurodégénératives
/
Fratrie
/
Diabète
/
Diagnostic
/
Dystonie
/
Alopécie
/
Hypogonadisme
Type d'étude:
Etude diagnostique
Limites du sujet:
Humains
langue:
Anglais
Texte intégral:
Journal of Movement Disorders
Année:
2016
Type:
Article
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