Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.
Mol Cell Probes
; 29(5): 299-307, 2015 Oct.
Article
em En
| MEDLINE
| ID: mdl-26003401
ABSTRACT
Joubert syndrome (JS) and related disorders (JSRD), Meckel syndrome (MKS) and Bardet-Biedl syndrome (BBS) are autosomal recessive ciliopathies with a broad clinical and genetic overlap. In our multiethnic cohort of 88 MKS, 61 JS/JSRD and 66 BBS families we performed genetic analyses and were able to determine mutation frequencies and detection rates for the most frequently mutated MKS genes. On the basis of determined mutation frequencies, a next generation gene panel for JS/JSRD and MKS was established. Furthermore 35 patients from 26 unrelated consanguineous families were investigated by SNP array-based homozygosity mapping and subsequent DNA sequencing of known candidate genes according to runs of homozygosity size in descending order. This led to the identification of the causative homozygous mutation in 62% of unrelated index cases. Based on our data we discuss various strategies for diagnostic mutation detection in the syndromic ciliopathies JS/JSRD, MKS and BBS.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Retina
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Anormalidades Múltiplas
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Cerebelo
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Anormalidades do Olho
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Testes Genéticos
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Transtornos da Motilidade Ciliar
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Síndrome de Bardet-Biedl
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Encefalocele
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Doenças Renais Císticas
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Doenças Renais Policísticas
Limite:
Female
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Humans
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Male
Idioma:
En
Revista:
Mol Cell Probes
Assunto da revista:
BIOLOGIA MOLECULAR
/
BIOTECNOLOGIA
Ano de publicação:
2015
Tipo de documento:
Article