A novel mutation in the FRAS1 gene in a patient with Fraser syndrome.
Genet Couns
; 26(1): 21-7, 2015.
Article
em En
| MEDLINE
| ID: mdl-26043503
ABSTRACT
Fraser Syndrome (FS) is a rare disease with autosomal recessive inheritance characterized by cryptophthalmus, cutaneous syndactyly, laryngeal and urogenital anomalies. Mutations in the genes FRAS1 and FREM2 encoding components of a protein complex of the extracellular matrix, and recently also mutations in GRIP1 have been found to be causative for FS. We present here molecular and clinical findings of a patient with FS who was found to have a novel homozygous frameshift mutation c.9739delA, p.(T3247Pfs*44) in exon 63 of FRAS1 gene. Further testing confirmed the heterozygous carrier status of parents.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas da Matriz Extracelular
/
Mutação da Fase de Leitura
/
Síndrome de Fraser
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Genet Couns
Assunto da revista:
ETICA
/
GENETICA MEDICA
Ano de publicação:
2015
Tipo de documento:
Article