A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever.
BMC Med Genet
; 15: 74, 2014 Jul 01.
Article
en En
| MEDLINE
| ID: mdl-24980720
BACKGROUND: Familial Mediterranean Fever (FMF), characterized by recurrent fever and inflammation of serous membranes, is an autosomal recessive disease caused by mutations in the Mediterranean fever (MEFV) gene. Around 296 mutations have been reported to date. METHODS: Two two-generation Turkish families with a total of four members diagnosed with FMF clinically were screened with DNA sequencing performed on exon 2 and exon 10 of the MEFV genes. Then, complete exome sequencing analysis of MEFV gene was done for four patients in whom novel mutation was detected. RESULTS: A novel single base Guanine (G) insertion mutation in the coding region of MEFV gene, named c.2330dupG (p.Gln778Serfs*4 or Q778SfsX4) resulting in a mutated Pyrin/Marenostrin protein was identified. CONCLUSIONS: This is the first report of a new mutation in exon 10 of the MEFV gene in two Turkish families. This novel pattern of insertion mutation may provide important information for further studies on FMF pathogenesis.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fiebre Mediterránea Familiar
/
Mutagénesis Insercional
/
Proteínas del Citoesqueleto
/
Guanina
Tipo de estudio:
Risk_factors_studies
Límite:
Adolescent
/
Child
/
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
BMC Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2014
Tipo del documento:
Article
País de afiliación:
Turquía
Pais de publicación:
Reino Unido