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
in 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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Loeys-Dietz Syndrome
/
Marfan Syndrome
/
Microfilament Proteins
/
Mutation
Type of study:
Diagnostic_studies
/
Etiology_studies
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
Clin Genet
Year:
2014
Type:
Article
Affiliation country:
Austria