Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.
Hum Genet
; 135(8): 919-921, 2016 08.
Article
em En
| MEDLINE
| ID: mdl-27245168
ABSTRACT
Joubert Syndrome (JS) is an inherited ciliopathy associated with mutations in genes essential in primary cilium function. Whole exome sequencing in a multiplex consanguineous family from India revealed a KIAA0556 homozygous single base pair deletion mutation (c.4420del; p.Met1474Cysfs*11). Knockdown of the gene in zebrafish resulted in a ciliopathy phenotype, rescued by co-injection of wildtype cDNA. Affected siblings present a mild and classical form of Joubert syndrome allowing for further delineation of the JS associated genotypic spectrum.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Retina
/
Anormalidades Múltiplas
/
Cerebelo
/
Anormalidades do Olho
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Códon sem Sentido
/
Doenças Renais Císticas
/
Ciliopatias
/
Proteínas Associadas aos Microtúbulos
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Animals
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Child
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Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Estados Unidos