Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome.
Eur J Med Genet
; 60(5): 239-244, 2017 May.
Article
em En
| MEDLINE
| ID: mdl-28246031
ABSTRACT
Jalili syndrome is a rare autosomal recessive genetic disease characterized by the association of amelogenesis imperfecta and cone-rod retinal dystrophy. This syndrome is caused by mutations in the CNNM4 gene. Different types of CNNM4 mutations have been reported; missense, nonsense, large deletions, single base insertion, and duplication. We used Sanger sequencing to analyze a large consanguineous family with three siblings affected with Jalili syndrome, suspected clinically after dental and ophthalmological examination. These patients are carrying a novel homozygous mutation in the splice site acceptor of intron 3 (c.1682-1G > C) in the CNNM4 gene. We compare the findings of the present family to those from literature, in order to further delineate Jalili syndrome.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Retinose Pigmentar
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Splicing de RNA
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Proteínas de Transporte de Cátions
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Amelogênese Imperfeita
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Mutação
Limite:
Adolescent
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Adult
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Female
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Humans
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Male
Idioma:
En
Revista:
Eur J Med Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2017
Tipo de documento:
Article