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Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3′ end of FBN1 gene
- Source :
- European Journal of Medical Genetics. 57:230-234
- Publication Year :
- 2014
- Publisher :
- Elsevier BV, 2014.
-
Abstract
- We report a 16-year-old girl with neonatal progeroid features and congenital lipodystrophy who was considered at birth as a possible variant of Wiedemann–Rautenstrauch syndrome. The emergence of additional clinical signs (marfanoid habitus, severe myopia and dilatation of the aortic bulb) lead to consider the diagnosis of the progeroid variant of Marfan syndrome. A de novo donor splice-site mutation (c.8226+1G>A) was identified in FBN1. We show that this mutation leads to exon 64 skipping and to the production of a stable mRNA that should allow synthesis of a truncated profibrillin-1, in which the C-terminal furin cleavage site is altered. FBN1 mutations associated with a similar phenotype have only been reported in four other patients. We confirm the correlation between marfanoid phenotype with congenital lipodystrophy and neonatal progeroid features (marfanoid–progeroid–lipodystrophy syndrome) and frameshift mutations at the 3′ end of FBN1. This syndrome should be considered in differential diagnosis of neonatal progeroid syndromes.
- Subjects :
- Marfan syndrome
endocrine system
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
Pathology
Adolescent
Lipodystrophy
Fibrillin-1
DNA Mutational Analysis
Molecular Sequence Data
Biology
Fibrillins
Progeroid syndromes
Marfan Syndrome
Frameshift mutation
Diagnosis, Differential
Exon
Progeria
Internal medicine
Genetics
medicine
Humans
Amino Acid Sequence
Genetics (clinical)
Fetal Growth Retardation
Base Sequence
Microfilament Proteins
Marfanoid
General Medicine
medicine.disease
Phenotype
Endocrinology
Molecular Diagnostic Techniques
Female
Differential diagnosis
Fibrillin
Subjects
Details
- ISSN :
- 17697212
- Volume :
- 57
- Database :
- OpenAIRE
- Journal :
- European Journal of Medical Genetics
- Accession number :
- edsair.doi.dedup.....0439682930f736e0104a2d59d86c7dfc