Identification of gross deletions in FBN1 gene by MLPA.
Hum Genomics
; 12(1): 46, 2018 10 04.
Article
en En
| MEDLINE
| ID: mdl-30286810
ABSTRACT
BACKGROUND:
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. Approximately 90% of classic MFS patients have a FBN1 mutation that can be identified by single-gene sequencing or gene-panel sequencing targeting FBN1. However, a small proportion of MFS patients carry a large genomic deletion in FBN1, which cannot be detected by routine sequencing. Here, we performed an MLPA (multiplex ligation-dependent probe amplification) test to detect large deletions and/or duplications in FBN1 and TGFBR2 in 115 unrelated Chinese patients with suspected MFS or early-onset aneurysm/dissection.RESULTS:
Five novel large deletions encompassing a single exon or multiple exons in the FBN1 gene were characterized in five unrelated patients, of which four were proven by Sanger sequencing, and the breakpoints were identified. Three of them met the revised Ghent criteria when genetic results were not available, and the other two patients were highly suspected and diagnosed with MFS until the FBN1 deletions were identified.CONCLUSIONS:
Our finding expands the mutation spectrum of large FBN1 deletions and emphasizes the importance of screening for large FBN1 deletions in clinical genetic testing, especially for those with classic Marfan phenotype.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Pruebas Genéticas
/
Eliminación de Secuencia
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Fibrilina-1
/
Síndrome de Marfan
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adult
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Female
/
Humans
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Male
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Middle aged
Idioma:
En
Revista:
Hum Genomics
Asunto de la revista:
GENETICA
Año:
2018
Tipo del documento:
Article