Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.
Clin Genet
; 86(6): 552-7, 2014 Dec.
Article
em En
| MEDLINE
| ID: mdl-24199744
ABSTRACT
We report about 52 pediatric patients of 40 different families with confirmed Marfan syndrome (MFS) in 49 patients and Loeys-Dietz syndrome (LDS) in 3 patients. We found 39 different mutations, 15 of them being novel. Phenotype-genotype correlation in the 49 MFS patients showed that the majority of patients carrying mutations in exons 1-21 had ectopic lens (80%). Patients having mutations in exons 23-32 had a higher probability of aortic root dilation, in 50% even above a z score of 3. We found three children with neonatal MFS form, two of them with novel mutations. Of the three LDS patients, only one presented with the typical phenotype of LDS type 1.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Loeys-Dietz
/
Síndrome de Marfan
/
Proteínas dos Microfilamentos
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Mutação
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Adolescent
/
Adult
/
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Áustria
País de publicação:
DENMARK
/
DINAMARCA
/
DK