A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome.
J Hum Genet
; 63(8): 935-939, 2018 Jul.
Article
em En
| MEDLINE
| ID: mdl-29695797
ABSTRACT
Biallelic pathogenic variants in PIBF1 have been identified as one of the genetic etiologies of Joubert syndrome. We report a two-year-old girl with global developmental delay, facial dysmorphism, hypotonia, enlarged cystic kidneys, molar tooth sign, and thinning of corpus callosum. A novel homozygous 36-bp insertion in PIBF1 (c.1181_1182ins36) was identified by exome sequencing as the likely cause of her condition. This is the second publication demonstrating the cause and effect relationship between PIBF1 and Joubert syndrome.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas da Gravidez
/
Retina
/
Anormalidades Múltiplas
/
Cerebelo
/
Anormalidades do Olho
/
Mutagênese Insercional
/
Fatores Supressores Imunológicos
/
Pareamento de Bases
/
Alelos
/
Doenças Renais Císticas
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Hum Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Índia