Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
Orphanet J Rare Dis
; 9: 72, 2014 May 05.
Article
en En
| MEDLINE
| ID: mdl-24886560
ABSTRACT
Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the "molar tooth sign"), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also cause Meckel syndrome, a lethal ciliopathy with kidney, liver and skeletal involvement. Here we describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Retina
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Proteínas
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Enfermedades Cerebelosas
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Anomalías del Ojo
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Trastornos de la Motilidad Ciliar
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Encefalocele
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Enfermedades Renales Quísticas
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Enfermedades Renales Poliquísticas
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Mutación
Límite:
Adult
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Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
Orphanet J Rare Dis
Asunto de la revista:
MEDICINA
Año:
2014
Tipo del documento:
Article